RESUMO
RATIONALE: Mutations of the NKX2-1 gene are associated with brain-lung-thyroid syndrome, which is characterized by benign hereditary chorea, hypothyroidism, and pulmonary disease with variable presentation. Surfactant protein C (SFTPC) gene mutations result in chronic interstitial lung disease in adults or severe neonatal respiratory distress syndrome. PATIENT CONCERNS: Recurrent hypoxemia was observed shortly after birth in a baby at a gestational age of 40 weeks and birth weight of 3150âg. The need for respiratory support gradually increased. He had hypothyroidism and experienced feeding difficulties and irritability. DIAGNOSIS: Genetic examination of the peripheral blood revealed combined mutations of the NKX2-1 and SFTPC genes. INTERVENTIONS: The patient was administered respiratory support, antibiotics, low-dose dexamethasone, supplementary thyroxine, venous nutrition, and other supportive measures. OUTCOMES: The patient's guardian stopped treatment 3 months after commencement of treatment, due to the seriousness of his condition and the patient died. LESSONS: Combined mutations of NKX2-1 and SFTPC genes are very rare. Thus, idiopathic interstitial pneumonia with hypothyroidism and neurological disorders require special attention.
Assuntos
Atetose/genética , Coreia/genética , Hipotireoidismo Congênito/genética , Proteína C/metabolismo , Surfactantes Pulmonares/metabolismo , Síndrome do Desconforto Respiratório do Recém-Nascido/genética , Fator Nuclear 1 de Tireoide/genética , Atetose/sangue , Atetose/diagnóstico , Atetose/terapia , Coreia/sangue , Coreia/diagnóstico , Coreia/terapia , Hipotireoidismo Congênito/sangue , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/terapia , Evolução Fatal , Transtornos da Alimentação e da Ingestão de Alimentos/diagnóstico , Transtornos da Alimentação e da Ingestão de Alimentos/etiologia , Humanos , Hipotireoidismo/diagnóstico , Hipotireoidismo/etiologia , Hipóxia/diagnóstico , Hipóxia/etiologia , Recém-Nascido , Cariotipagem , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/etiologia , Masculino , Mutação , Cuidados Paliativos/métodos , Recidiva , Síndrome do Desconforto Respiratório do Recém-Nascido/sangue , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Síndrome do Desconforto Respiratório do Recém-Nascido/terapiaRESUMO
The authors describe a pediatric patient with repaired hypoplastic left heart syndrome developing protein-losing enteropathy, hypocalcemia, vitamin D deficiency, and hemichorea. After correction of nutritional vitamin D deficiency with calcium and vitamin D supplementation, the chorea resolved. Hypoalbuminemia also improved after the correction of vitamin D deficiency without requiring albumin infusions. This report also raises the possible role of calcium or vitamin D in the intestinal loss of albumin in protein-losing enteropathy.
Assuntos
Coreia/etiologia , Lateralidade Funcional/fisiologia , Deficiência de Vitamina D/complicações , Pré-Escolar , Coreia/sangue , Seguimentos , Humanos , Masculino , Deficiência de Vitamina D/sangueRESUMO
Rat studies recently have suggested that the corpus striatum appears to be selectively and markedly affected by copper deficiencies beginning in the post-weanling period. A study of copper clearances has revealed that four out of five patients with chorea have depressed clearances between 0.00674 and .00313 (reference range 0.0137-0.0404 cc/min). The patients with depressed copper clearances had psychiatric illness themselves or in first-degree relatives. In the case of one patient, copper supplementation resulted in an abatement of symptoms that reversed on a single-blind crossover.