Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, ...Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.展开更多
Introduction The distribution of congenital heart disease (CHD) in sub-Saharan Africa is highly imprecise and varies from one region to another due to the inequality of diagnostic facilities. The aim of this stud...Introduction The distribution of congenital heart disease (CHD) in sub-Saharan Africa is highly imprecise and varies from one region to another due to the inequality of diagnostic facilities. The aim of this study was to determine the in-hospital prevalence of congenital heart disease in children at the Mother-Child hospital of Bingerville (HME) by specifying the diagnostic, therapeutic and evolutionary aspects. Materials and methods We conducted a retrospective, descriptive, cross-sectional study at HME of Bingerville from January 2021 to December 2022. All newborns with congenital heart disease confirmed by echocardiography were included in the study. Results Of 656 admissions to the neonatology department over the study period, congenital heart disease accounted for 14.9% (98/656) of cases. In our series, 76.7% were diagnosed before the 1st week of life, with a mean chronological age of 5.18 days and extremes of 0 and 46 days. There were as many male patients (50%) as female (50%), i.e. a sex ratio of 1. These newborns were premature in 60.2% of cases, with a mean and median gestational age of 34 weeks’ amenorrhea. Most were left-right shunts (90.8%). Persistent ductus arteriosus (PDA) (48.9%) predominated, followed by atrial septal defect (38.7%), ventricular septal defect (13.3%), common trunk artery (CTA) (3.1%) and open septal pulmonary atresia (OSPA) (1%) as the primary cyanogenic heart disease. Pulmonary arterial hypertension (PAH) (50%) was primary in 38.8% and secondary (61.2%). The mortality rate was 30.6%, and all CTA patients died (100%), with a significant statistical relationship (p = 0.027). Progression under treatment was marked by clinical stabilization (68/98) in 69.4% of cases. Conclusion: Congenital heart disease is relatively common at the Bingerville HME. Access to echocardiography should be facilitated in neonatology departments for rapid diagnosis and optimal management of congenital heart disease in newborns.展开更多
Various reports indicate that the incidence of congenital hypothyroidism is increasing in developed nations, and that improved detection and more inclusive criteria for the disease do not explain this trend entirely. ...Various reports indicate that the incidence of congenital hypothyroidism is increasing in developed nations, and that improved detection and more inclusive criteria for the disease do not explain this trend entirely. One risk factor documented in numerous studies is exposure to radioactive iodine found in nuclear weapons test fallout and nuclear reactor emissions. Large amounts of fallout disseminated worldwide from the meltdowns in four reactors at the Fukushima-Dai-ichi plant in Japan beginning March 11, 2011 included radioiodine isotopes. Just days after the meltdowns, I-131 concentrations in US precipitation was measured up to 211 times above normal. Highest levels of I-131 and airborne gross beta were documented in the five US States on the Pacific Ocean. The number of congenital hypothyroid cases in these five states from March 17-December 31, 2011 was 16% greater than for the same period in 2010, compared to a 3% decline in 36 other US States展开更多
Objective: To study the clinical therapy and prognosis in children with transient congenital hypothyroidism (CH).Methods: Fifty-seven children with CH diagnosed after neonatal screening were treated with low-dosage le...Objective: To study the clinical therapy and prognosis in children with transient congenital hypothyroidism (CH).Methods: Fifty-seven children with CH diagnosed after neonatal screening were treated with low-dosage levothyroxine (L-T4).Follow-up evaluation included the determination of TT3, TT4 and TSH serum levels and the assessment of thyroid gland morphology, bone age, growth development and development quotients (DQ). A full check-up was performed at age 2, when the affected children first discontinued the L-T4 treatment for 1 month, and one year later. Development quotients were compared (16.25±3.87) μg/d. Mean duration of therapy was (28.09±9.56) months. No significant difference was found between study group and control group in the DQ test (average score (106.58± 14.40) vs (102.4±8.6), P＞0.05) and 96.49% of the CH children achieved a test score above 85. Bone age, 99mTc scans and ultrasonographic findings were all normal, and evaluation of physical development was normal too, as were the serum levels of TT3, TT4 and TSH after one year of follow-up. Conclusion: A L-T4 dosage of and physical development at age 2. So it is possible for CH children to stop taking medicine if their laboratory findings and physical development are all normal after regular treatment and 2～3 years of follow-up.展开更多
Aim:To evaluate the hearing of children with congenital hypothyroidism(CH)and to analyze the knowledge that parents’have on the possible auditory impacts of the disease.Methods:A total of 263 parents/guardians were i...Aim:To evaluate the hearing of children with congenital hypothyroidism(CH)and to analyze the knowledge that parents’have on the possible auditory impacts of the disease.Methods:A total of 263 parents/guardians were interviewed about aspects of CH and hearing.Audiological evaluation was performed on 80 participants,divided into two groups:with CH(n?50)and without CH(n紏30).Clinical and laboratory CH data were obtained from medical records,pure tone auditory thresholds and acoustic reflexes were analyzed.The auditory data was compared between groups.Student’s t-test and Chi-square were used for statistical analysis at a significance level of 5%(p<0.05).Results:The majority(78%),of the parents were unaware that CH when not treated early is a potential risk to hearing.There was no correlation between socioeconomic class and level of information about CH and hearing(p>0,05;p=0.026).There was a statistically significant difference between the auditory tone thresholds of the groups and between the levels of intensity necessary for the triggering of the acoustic reflex.The group with CH presented the worst results(p<0.05)and absence of acoustic reflex in a normal tympanometric condition.Conclusions:Children with CH are more likely to develop damage to the auditory system involving retrocochlear structures when compared to healthy children,and that the disease may have been a risk factor for functional deficits without deteriorating hearing sensitivity.The possible impacts of CH on hearing,when not treated early,should be more publicized among the parents/guardians of this population.展开更多
Radiation exposure has been linked to increased risk of congenital hypothyroidism (CH) for decades. CH is a relatively uncommon condition, occurring in about 1 of 2000 US births. Thyroid Stimulating Hormone (TSH) leve...Radiation exposure has been linked to increased risk of congenital hypothyroidism (CH) for decades. CH is a relatively uncommon condition, occurring in about 1 of 2000 US births. Thyroid Stimulating Hormone (TSH) levels for each child born in California permitted an analysis of combined confirmed and borderline CH cases. Borderline/confirmed CH cases are more than seven times greater than just confirmed cases. Airborne levels of gross beta nuclear radiation in the US were elevated in the period starting several days after the Fukushima nuclear meltdown, especially in west coast states like California. The borderline/confirmed CH rate for newborns during the last 9.5 months in 2011 (exposed to Fukushima in utero) vs. births during other periods in 2011 and 2012 (not exposed) was significantly elevated, suggesting that adverse health effects to the newborn thyroid were not restricted to just a small number of confirmed CH cases. The sensitivity of the fetus to radiation exposure, plus the presence of thyroid-seeking radioiodine, suggest further analysis of Fukushima’s potential to cause adverse health effects in newborns is needed.展开更多
Introduction: Down syndrome (DS) is the most common chromosomal abnormality causing mental handicap in humans. Children with DS have significant medical problems and developmental delay which are further impaired by h...Introduction: Down syndrome (DS) is the most common chromosomal abnormality causing mental handicap in humans. Children with DS have significant medical problems and developmental delay which are further impaired by hypothyroidism. Those clinical features are potentially improved by using thyroxine replacement therapy. Objectives: To examine the evidence of effectiveness (motor & mental development) and safety of thyroxine supplementation in the treatment of SH and CH in children with DS. Methods: Several medical data bases (MEDLINE, EMBASE, CINAHL, Cochrane, Clinical Trials Gov, Essential Evidence and Google) were searched until 20 October, 2011, for randomized control trials (RCTs) that had examined thyroxine’s effectiveness and safety in the treatment of SH or CH in children with DS. Results: There were two high quality RCTs that examined thyroxine in the treatment of CH in children with DS, and no RCTs were found to have examined the effectiveness of thyroxine for SH in children with DS. Conclusion: The RCT which met our inclusion criteria provides the reliable evidence in recommending thyroxine for the treatment of CH in children with DS which is similar to the guidelines for general population. The absence of RCTs examining the treatment of SH in Children with DS indicates the need to conduct such trials.展开更多
BACKGROUND Congenital hepatic fibrosis(CHF)is a rare autosomal recessive disorder characterized by variable degrees of periportal fibrosis and malformation of bile ducts.CHF is generally accompanied by a variety of co...BACKGROUND Congenital hepatic fibrosis(CHF)is a rare autosomal recessive disorder characterized by variable degrees of periportal fibrosis and malformation of bile ducts.CHF is generally accompanied by a variety of conditions or syndromes with other organ involvement.CASE SUMMARY We report a 5-year-4-month-old Chinese boy with congenital hypothyroidism(CH)diagnosed with CHF.The patient was diagnosed with CH by a newborn screening test and has since been taking levothyroxine.He has developed normally without neurocognitive deficits.Abnormal liver function was observed in the patient at the age of 4 years and 11 mo,and elevated levels of liver function indices were persistent for 5 mo.Radiological imaging indicated hepatosplenomegaly without narrowing of the portal vein but dilated splenic vein.A liver biopsy confirmed the pathological features of CHF.Genetic testing revealed two novel homozygous mutations,namely,c.2141-3T>C variant in PKHD1 related to CHF and c.2921G>A(p.R974H)in DUOX2 related to CH.The patient was treated with compound glycyrrhizin tablet,ursodeoxycholic acid,and levothyroxine after diagnosis.The patient achieved a favorable clinical outcome during a follow-up period of over 2 years.CONCLUSION Herein,we report the first case of a Chinese boy with comorbidity of CHF and CH,carrying both PKHD1 gene and DUOX2 gene novel mutations.Liver biopsy and genetic testing should be considered for the diagnosis of coexistent liver disease in CH patients with unexplained abnormal liver function.展开更多
Background:Congenital hypothyroidism is a disorder of thyroid gland morphogenesis.It is the commonest endocrine disorder in newborns occurring in 1:4,000 to 1:3,000 live births.The incidence in Nigeria has not been we...Background:Congenital hypothyroidism is a disorder of thyroid gland morphogenesis.It is the commonest endocrine disorder in newborns occurring in 1:4,000 to 1:3,000 live births.The incidence in Nigeria has not been well documented probably due to lack of neonatal screening.Aim/objectives:To raise awareness of physicians to have a high index of suspicion for this treatable cause of mental retardation in children presenting with unusual symptoms.Case presentation:Case 1 presented to our hospital at 18 months of age with a respiratory tract infection.She had delayed developmental milestones and coarse facies among other features.This prompted a work up for hypothyroidism.Thyroid function tests done showed a profoundly hypothyroid picture and she was commenced on levothyroxine.Case 2 was referred to our facility at ninth week of age on suspicion of a congenital heart disease.The parents had complained of dry skin to the referring physician.She had a hypothyroid profile on laboratory evaluation.Conclusion:Congenital hypothyroidism should be suspected in children with unusual symptoms as it is a treatable cause of short stature and mental retardation.The introduction of newborn screening will go a long way in identifying the children in need of urgent thyroid replacement to prevent the negative consequences of untreated hypothyroidism.展开更多
Objective To review the clinical experience of diagnosis and treatment of the congenital diaphragmatic hernia in newborn infants. Methods Thirty-three neonates were diagnosed having congenital diaphragmatic hernia in ...Objective To review the clinical experience of diagnosis and treatment of the congenital diaphragmatic hernia in newborn infants. Methods Thirty-three neonates were diagnosed having congenital diaphragmatic hernia in our hospitalfrom Jan. 1,2004 to Sept. 30,2009. The clinical data was retrospectively reviewed. Results 21 cases were treated展开更多
Background: Congenital epulis (CE) also known as congenital granuler cell tumor is a rarely encountered pathology the majority of which originates from the gingival mucosa, particularly the anterior portion of the max...Background: Congenital epulis (CE) also known as congenital granuler cell tumor is a rarely encountered pathology the majority of which originates from the gingival mucosa, particularly the anterior portion of the maxillary alveolar ridge. CE mostly seen in girls. CE with unclear histogenesis and etiology is seen at birth as a solitary mass in oral cavity. Apart from non-congenital epulis, it contains granular cells. So lesion is named congenital granular cell tumor. CE has a benign histopathology and after surgery there is no recurrence reported in the literature. Aim: The purpose of this case report, is to present, 5 day-old female neonatal girl who was seen CE on the left maxillary alveolar ridge on the region of the future incisors. Case Presentation: The tumoral lesion was well-circumscribed and 10 mm in diameter, smooth surfaced and red in colour much like alveolar mucosal tissue. Tumoral lesion was affecting oral feeding due to obstruction. Excisional biopsy was performed under topical anesthesia. The histopathology was reported as congenital epulis. During the 4 months follow-up, we have seen no complication. Conclusion: CE is a neonatal congenital tumor which is very rare. The treatment of CE is surgical excision. Unless the early treatment is not executed, tumor may cause difficulties in oral feeding and respiration. Therefore it should be excised in an early period.展开更多
Uterovaginal prolapse is an exceptional pathology in the newborn. It is defined by the descent and protrusion of the uterus and vaginal walls to the outside via the vaginal orifice. It particularly affects newborns wi...Uterovaginal prolapse is an exceptional pathology in the newborn. It is defined by the descent and protrusion of the uterus and vaginal walls to the outside via the vaginal orifice. It particularly affects newborns with neural tube defects. The diagnosis is usually made at birth. Different types of conservative or surgical treatment have been suggested for genital prolapse in neonates. We report the case of a newborn of 6 hours of life who was received for congenital utero-vaginal without neural tube closure anomaly. He was successfully treated with digital reduction of the mass associated with a cerclage of the vaginal orifice. Conclusion: Digital reduction of the prolapse associated with a cerclage of the vaginal orifice is simple, effective and avoids any recurrence.展开更多
Background: Congenital cystic adenomatoid malformation (CCAM) is a congenital anomaly of lung development, accounting for approximately 25% of congenital lung lesions. Respiratory distress often occurs during the neon...Background: Congenital cystic adenomatoid malformation (CCAM) is a congenital anomaly of lung development, accounting for approximately 25% of congenital lung lesions. Respiratory distress often occurs during the neonatal period, and in 80% to 85% of cases, the diagnosis is made before the age of 2 years following respiratory infections. Case Report: We report a case of MAKC diagnosed in the neonatal period. The diagnosis was based on clinical, radiological and histological elements. Our patient underwent surgical resection. Histological examination confirmed the diagnosis of MAKC without any sign of malignancy. The postoperative evolution was good. Conclusion: Clinicians and pathologists should recognize the early discovery of MAKC in neonatal age. The clinical diagnosis strongly guided by the radiological approach is confirmed by the pathological anatomy insofar as the therapeutic sanction is surgical in the majority of the cases.展开更多
本文报道了1例早产儿先天性结核的诊断及治疗过程。患儿系胎龄29+1周阴道娩出,生后立即收入武汉大学中南医院新生儿重症监护室(neonatal intensive care unit,NICU)负压隔离病房单独隔离。患儿母亲自孕15~16周出现低热、咳嗽,产前确诊...本文报道了1例早产儿先天性结核的诊断及治疗过程。患儿系胎龄29+1周阴道娩出,生后立即收入武汉大学中南医院新生儿重症监护室(neonatal intensive care unit,NICU)负压隔离病房单独隔离。患儿母亲自孕15~16周出现低热、咳嗽,产前确诊为“亚急性血行播散型肺结核、结核性脑膜炎”并接受抗结核治疗27天。患儿生后第1天胃液检出少量结核杆菌,痰液检出结核DNA,结核抗体阳性,生后第2天血液标本T-SPOT试验阳性。入院后置负压病房隔离,予以呼吸及营养支持等治疗,生后第2天开始予以异烟肼、利福平、吡嗪酰胺三联抗结核治疗。患儿病情逐渐好转,未出现结核感染的严重症状,于生后第52天(纠正胎龄36^(+4)周)离氧出院,现持续随访中。对疑似先天性结核感染的新生儿,及早诊断和规范化治疗可避免不必要的死亡和残疾发生。展开更多
BACKGROUND Congenital tuberculosis(TB),tuberculous meningitis,and situs inversus totalis are rare diseases.We here report a patient who simultaneously suffered from these three rare diseases.There is currently no such...BACKGROUND Congenital tuberculosis(TB),tuberculous meningitis,and situs inversus totalis are rare diseases.We here report a patient who simultaneously suffered from these three rare diseases.There is currently no such report in the literature.Congenital TB is easily misdiagnosed and has a high case fatality rate.Timely anti-TB treatment is required.CASE SUMMARY A 19-day-old male newborn was admitted to hospital due to a fever for 6 h.His blood tests and chest X-rays suggested infection,and he was initially considered to have neonatal pneumonia and sepsis.He did not respond to conventional antiinfective treatment.Finally,Mycobacterium tuberculosis was found in sputum lavage fluid on the 10th day after admission.In addition,the mother's tuberculin skin test was positive,with an induration of 22 mm,and her pelvic computed tomography scan suggested the possibility of tuberculous pelvic inflammatory disease.The child was diagnosed with congenital TB and immediately managed with anti-TB therapy and symptomatic supportive treatment.However,the infant's condition gradually worsened and he developed severe tuberculous pneumonia and tuberculous meningitis,and eventually died of respiratory failure.CONCLUSION If conventional anti-infective treatment is ineffective in neonatal pneumonia,anti-TB treatment should be considered.展开更多
Juvenile hypothyroidism is an unfrequent form of hypothyroidism that affects children. If not diagnosed and treated properly, it may cause severe neurological disorders during growth. The most frequent difficulties ar...Juvenile hypothyroidism is an unfrequent form of hypothyroidism that affects children. If not diagnosed and treated properly, it may cause severe neurological disorders during growth. The most frequent difficulties are found in school performance, difficulties in concentration, hyperactivity or fatigue and damage on the onset of puberty. Starting levothyroxine as a drug of choice is essential, and it should be made according to the age and weight of the child. Laboratory tests for control should be requested periodically, along with a strict control of the child’s development and growth. The family-doctor relationship, along with a clear guidance on the importance of treatment, is critical to achieve a successful treatment. This article is a review about the main clinical features of hypothyroidism in childhood, especially in developing countries, providing key aspects of adherence and characteristics of its follow-up.展开更多
文摘Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.
文摘Introduction The distribution of congenital heart disease (CHD) in sub-Saharan Africa is highly imprecise and varies from one region to another due to the inequality of diagnostic facilities. The aim of this study was to determine the in-hospital prevalence of congenital heart disease in children at the Mother-Child hospital of Bingerville (HME) by specifying the diagnostic, therapeutic and evolutionary aspects. Materials and methods We conducted a retrospective, descriptive, cross-sectional study at HME of Bingerville from January 2021 to December 2022. All newborns with congenital heart disease confirmed by echocardiography were included in the study. Results Of 656 admissions to the neonatology department over the study period, congenital heart disease accounted for 14.9% (98/656) of cases. In our series, 76.7% were diagnosed before the 1st week of life, with a mean chronological age of 5.18 days and extremes of 0 and 46 days. There were as many male patients (50%) as female (50%), i.e. a sex ratio of 1. These newborns were premature in 60.2% of cases, with a mean and median gestational age of 34 weeks’ amenorrhea. Most were left-right shunts (90.8%). Persistent ductus arteriosus (PDA) (48.9%) predominated, followed by atrial septal defect (38.7%), ventricular septal defect (13.3%), common trunk artery (CTA) (3.1%) and open septal pulmonary atresia (OSPA) (1%) as the primary cyanogenic heart disease. Pulmonary arterial hypertension (PAH) (50%) was primary in 38.8% and secondary (61.2%). The mortality rate was 30.6%, and all CTA patients died (100%), with a significant statistical relationship (p = 0.027). Progression under treatment was marked by clinical stabilization (68/98) in 69.4% of cases. Conclusion: Congenital heart disease is relatively common at the Bingerville HME. Access to echocardiography should be facilitated in neonatology departments for rapid diagnosis and optimal management of congenital heart disease in newborns.
文摘Various reports indicate that the incidence of congenital hypothyroidism is increasing in developed nations, and that improved detection and more inclusive criteria for the disease do not explain this trend entirely. One risk factor documented in numerous studies is exposure to radioactive iodine found in nuclear weapons test fallout and nuclear reactor emissions. Large amounts of fallout disseminated worldwide from the meltdowns in four reactors at the Fukushima-Dai-ichi plant in Japan beginning March 11, 2011 included radioiodine isotopes. Just days after the meltdowns, I-131 concentrations in US precipitation was measured up to 211 times above normal. Highest levels of I-131 and airborne gross beta were documented in the five US States on the Pacific Ocean. The number of congenital hypothyroid cases in these five states from March 17-December 31, 2011 was 16% greater than for the same period in 2010, compared to a 3% decline in 36 other US States
文摘Objective: To study the clinical therapy and prognosis in children with transient congenital hypothyroidism (CH).Methods: Fifty-seven children with CH diagnosed after neonatal screening were treated with low-dosage levothyroxine (L-T4).Follow-up evaluation included the determination of TT3, TT4 and TSH serum levels and the assessment of thyroid gland morphology, bone age, growth development and development quotients (DQ). A full check-up was performed at age 2, when the affected children first discontinued the L-T4 treatment for 1 month, and one year later. Development quotients were compared (16.25±3.87) μg/d. Mean duration of therapy was (28.09±9.56) months. No significant difference was found between study group and control group in the DQ test (average score (106.58± 14.40) vs (102.4±8.6), P＞0.05) and 96.49% of the CH children achieved a test score above 85. Bone age, 99mTc scans and ultrasonographic findings were all normal, and evaluation of physical development was normal too, as were the serum levels of TT3, TT4 and TSH after one year of follow-up. Conclusion: A L-T4 dosage of and physical development at age 2. So it is possible for CH children to stop taking medicine if their laboratory findings and physical development are all normal after regular treatment and 2～3 years of follow-up.
文摘Aim:To evaluate the hearing of children with congenital hypothyroidism(CH)and to analyze the knowledge that parents’have on the possible auditory impacts of the disease.Methods:A total of 263 parents/guardians were interviewed about aspects of CH and hearing.Audiological evaluation was performed on 80 participants,divided into two groups:with CH(n?50)and without CH(n紏30).Clinical and laboratory CH data were obtained from medical records,pure tone auditory thresholds and acoustic reflexes were analyzed.The auditory data was compared between groups.Student’s t-test and Chi-square were used for statistical analysis at a significance level of 5%(p<0.05).Results:The majority(78%),of the parents were unaware that CH when not treated early is a potential risk to hearing.There was no correlation between socioeconomic class and level of information about CH and hearing(p>0,05;p=0.026).There was a statistically significant difference between the auditory tone thresholds of the groups and between the levels of intensity necessary for the triggering of the acoustic reflex.The group with CH presented the worst results(p<0.05)and absence of acoustic reflex in a normal tympanometric condition.Conclusions:Children with CH are more likely to develop damage to the auditory system involving retrocochlear structures when compared to healthy children,and that the disease may have been a risk factor for functional deficits without deteriorating hearing sensitivity.The possible impacts of CH on hearing,when not treated early,should be more publicized among the parents/guardians of this population.
文摘Radiation exposure has been linked to increased risk of congenital hypothyroidism (CH) for decades. CH is a relatively uncommon condition, occurring in about 1 of 2000 US births. Thyroid Stimulating Hormone (TSH) levels for each child born in California permitted an analysis of combined confirmed and borderline CH cases. Borderline/confirmed CH cases are more than seven times greater than just confirmed cases. Airborne levels of gross beta nuclear radiation in the US were elevated in the period starting several days after the Fukushima nuclear meltdown, especially in west coast states like California. The borderline/confirmed CH rate for newborns during the last 9.5 months in 2011 (exposed to Fukushima in utero) vs. births during other periods in 2011 and 2012 (not exposed) was significantly elevated, suggesting that adverse health effects to the newborn thyroid were not restricted to just a small number of confirmed CH cases. The sensitivity of the fetus to radiation exposure, plus the presence of thyroid-seeking radioiodine, suggest further analysis of Fukushima’s potential to cause adverse health effects in newborns is needed.
文摘Introduction: Down syndrome (DS) is the most common chromosomal abnormality causing mental handicap in humans. Children with DS have significant medical problems and developmental delay which are further impaired by hypothyroidism. Those clinical features are potentially improved by using thyroxine replacement therapy. Objectives: To examine the evidence of effectiveness (motor & mental development) and safety of thyroxine supplementation in the treatment of SH and CH in children with DS. Methods: Several medical data bases (MEDLINE, EMBASE, CINAHL, Cochrane, Clinical Trials Gov, Essential Evidence and Google) were searched until 20 October, 2011, for randomized control trials (RCTs) that had examined thyroxine’s effectiveness and safety in the treatment of SH or CH in children with DS. Results: There were two high quality RCTs that examined thyroxine in the treatment of CH in children with DS, and no RCTs were found to have examined the effectiveness of thyroxine for SH in children with DS. Conclusion: The RCT which met our inclusion criteria provides the reliable evidence in recommending thyroxine for the treatment of CH in children with DS which is similar to the guidelines for general population. The absence of RCTs examining the treatment of SH in Children with DS indicates the need to conduct such trials.
基金Supported by National Natural Science Foundation of China,No.81870373Shanghai Hospital Development Center New Frontier Technology Joint Research Project,No.SHDC12017115and 2019 Shanghai“Innovative Action Plan of Science and Technology”Animal Research Project Guide,No.19140904301.
文摘BACKGROUND Congenital hepatic fibrosis(CHF)is a rare autosomal recessive disorder characterized by variable degrees of periportal fibrosis and malformation of bile ducts.CHF is generally accompanied by a variety of conditions or syndromes with other organ involvement.CASE SUMMARY We report a 5-year-4-month-old Chinese boy with congenital hypothyroidism(CH)diagnosed with CHF.The patient was diagnosed with CH by a newborn screening test and has since been taking levothyroxine.He has developed normally without neurocognitive deficits.Abnormal liver function was observed in the patient at the age of 4 years and 11 mo,and elevated levels of liver function indices were persistent for 5 mo.Radiological imaging indicated hepatosplenomegaly without narrowing of the portal vein but dilated splenic vein.A liver biopsy confirmed the pathological features of CHF.Genetic testing revealed two novel homozygous mutations,namely,c.2141-3T>C variant in PKHD1 related to CHF and c.2921G>A(p.R974H)in DUOX2 related to CH.The patient was treated with compound glycyrrhizin tablet,ursodeoxycholic acid,and levothyroxine after diagnosis.The patient achieved a favorable clinical outcome during a follow-up period of over 2 years.CONCLUSION Herein,we report the first case of a Chinese boy with comorbidity of CHF and CH,carrying both PKHD1 gene and DUOX2 gene novel mutations.Liver biopsy and genetic testing should be considered for the diagnosis of coexistent liver disease in CH patients with unexplained abnormal liver function.
文摘Background:Congenital hypothyroidism is a disorder of thyroid gland morphogenesis.It is the commonest endocrine disorder in newborns occurring in 1:4,000 to 1:3,000 live births.The incidence in Nigeria has not been well documented probably due to lack of neonatal screening.Aim/objectives:To raise awareness of physicians to have a high index of suspicion for this treatable cause of mental retardation in children presenting with unusual symptoms.Case presentation:Case 1 presented to our hospital at 18 months of age with a respiratory tract infection.She had delayed developmental milestones and coarse facies among other features.This prompted a work up for hypothyroidism.Thyroid function tests done showed a profoundly hypothyroid picture and she was commenced on levothyroxine.Case 2 was referred to our facility at ninth week of age on suspicion of a congenital heart disease.The parents had complained of dry skin to the referring physician.She had a hypothyroid profile on laboratory evaluation.Conclusion:Congenital hypothyroidism should be suspected in children with unusual symptoms as it is a treatable cause of short stature and mental retardation.The introduction of newborn screening will go a long way in identifying the children in need of urgent thyroid replacement to prevent the negative consequences of untreated hypothyroidism.
文摘Objective To review the clinical experience of diagnosis and treatment of the congenital diaphragmatic hernia in newborn infants. Methods Thirty-three neonates were diagnosed having congenital diaphragmatic hernia in our hospitalfrom Jan. 1,2004 to Sept. 30,2009. The clinical data was retrospectively reviewed. Results 21 cases were treated
文摘Background: Congenital epulis (CE) also known as congenital granuler cell tumor is a rarely encountered pathology the majority of which originates from the gingival mucosa, particularly the anterior portion of the maxillary alveolar ridge. CE mostly seen in girls. CE with unclear histogenesis and etiology is seen at birth as a solitary mass in oral cavity. Apart from non-congenital epulis, it contains granular cells. So lesion is named congenital granular cell tumor. CE has a benign histopathology and after surgery there is no recurrence reported in the literature. Aim: The purpose of this case report, is to present, 5 day-old female neonatal girl who was seen CE on the left maxillary alveolar ridge on the region of the future incisors. Case Presentation: The tumoral lesion was well-circumscribed and 10 mm in diameter, smooth surfaced and red in colour much like alveolar mucosal tissue. Tumoral lesion was affecting oral feeding due to obstruction. Excisional biopsy was performed under topical anesthesia. The histopathology was reported as congenital epulis. During the 4 months follow-up, we have seen no complication. Conclusion: CE is a neonatal congenital tumor which is very rare. The treatment of CE is surgical excision. Unless the early treatment is not executed, tumor may cause difficulties in oral feeding and respiration. Therefore it should be excised in an early period.
文摘Uterovaginal prolapse is an exceptional pathology in the newborn. It is defined by the descent and protrusion of the uterus and vaginal walls to the outside via the vaginal orifice. It particularly affects newborns with neural tube defects. The diagnosis is usually made at birth. Different types of conservative or surgical treatment have been suggested for genital prolapse in neonates. We report the case of a newborn of 6 hours of life who was received for congenital utero-vaginal without neural tube closure anomaly. He was successfully treated with digital reduction of the mass associated with a cerclage of the vaginal orifice. Conclusion: Digital reduction of the prolapse associated with a cerclage of the vaginal orifice is simple, effective and avoids any recurrence.
文摘Background: Congenital cystic adenomatoid malformation (CCAM) is a congenital anomaly of lung development, accounting for approximately 25% of congenital lung lesions. Respiratory distress often occurs during the neonatal period, and in 80% to 85% of cases, the diagnosis is made before the age of 2 years following respiratory infections. Case Report: We report a case of MAKC diagnosed in the neonatal period. The diagnosis was based on clinical, radiological and histological elements. Our patient underwent surgical resection. Histological examination confirmed the diagnosis of MAKC without any sign of malignancy. The postoperative evolution was good. Conclusion: Clinicians and pathologists should recognize the early discovery of MAKC in neonatal age. The clinical diagnosis strongly guided by the radiological approach is confirmed by the pathological anatomy insofar as the therapeutic sanction is surgical in the majority of the cases.
文摘本文报道了1例早产儿先天性结核的诊断及治疗过程。患儿系胎龄29+1周阴道娩出,生后立即收入武汉大学中南医院新生儿重症监护室(neonatal intensive care unit,NICU)负压隔离病房单独隔离。患儿母亲自孕15~16周出现低热、咳嗽,产前确诊为“亚急性血行播散型肺结核、结核性脑膜炎”并接受抗结核治疗27天。患儿生后第1天胃液检出少量结核杆菌,痰液检出结核DNA,结核抗体阳性,生后第2天血液标本T-SPOT试验阳性。入院后置负压病房隔离,予以呼吸及营养支持等治疗,生后第2天开始予以异烟肼、利福平、吡嗪酰胺三联抗结核治疗。患儿病情逐渐好转,未出现结核感染的严重症状,于生后第52天(纠正胎龄36^(+4)周)离氧出院,现持续随访中。对疑似先天性结核感染的新生儿,及早诊断和规范化治疗可避免不必要的死亡和残疾发生。
文摘BACKGROUND Congenital tuberculosis(TB),tuberculous meningitis,and situs inversus totalis are rare diseases.We here report a patient who simultaneously suffered from these three rare diseases.There is currently no such report in the literature.Congenital TB is easily misdiagnosed and has a high case fatality rate.Timely anti-TB treatment is required.CASE SUMMARY A 19-day-old male newborn was admitted to hospital due to a fever for 6 h.His blood tests and chest X-rays suggested infection,and he was initially considered to have neonatal pneumonia and sepsis.He did not respond to conventional antiinfective treatment.Finally,Mycobacterium tuberculosis was found in sputum lavage fluid on the 10th day after admission.In addition,the mother's tuberculin skin test was positive,with an induration of 22 mm,and her pelvic computed tomography scan suggested the possibility of tuberculous pelvic inflammatory disease.The child was diagnosed with congenital TB and immediately managed with anti-TB therapy and symptomatic supportive treatment.However,the infant's condition gradually worsened and he developed severe tuberculous pneumonia and tuberculous meningitis,and eventually died of respiratory failure.CONCLUSION If conventional anti-infective treatment is ineffective in neonatal pneumonia,anti-TB treatment should be considered.
文摘Juvenile hypothyroidism is an unfrequent form of hypothyroidism that affects children. If not diagnosed and treated properly, it may cause severe neurological disorders during growth. The most frequent difficulties are found in school performance, difficulties in concentration, hyperactivity or fatigue and damage on the onset of puberty. Starting levothyroxine as a drug of choice is essential, and it should be made according to the age and weight of the child. Laboratory tests for control should be requested periodically, along with a strict control of the child’s development and growth. The family-doctor relationship, along with a clear guidance on the importance of treatment, is critical to achieve a successful treatment. This article is a review about the main clinical features of hypothyroidism in childhood, especially in developing countries, providing key aspects of adherence and characteristics of its follow-up.
