Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypomelanosis of Ito has been associated with precocious puberty in two cases. This study reports a third case involving a female with hypomelanosis of Ito including severe mental retardation and seizure disorder with autonomic symptoms (gastroesophageal reflux and asthma). At age 5 she developed vaginal discharge, thelarche, and adrenarche. Soon after, she died of pneumonia stemming from her neurologic deficits. A postmortem examination revealed normal gonads and endocrine organs. The breasts and vulva were prematurely developed. Central nervous system findings included megalencephaly, neuronal eosinophilic inclusions, leptomeningeal neuroglial heterotopias, and cortical dysplasia. Both previously reported cases of hypomelanosis of Ito associated with precocious puberty had abnormal gonads and responded to cyproterone acetate therapy, indicating a peripheral mechanism of precocious puberty (gonadotrophin-independent). The current case, which was autopsied, lacks significant gonadal pathology, and has extensive neurologic involvement that suggests that a central mechanism of precocious puberty (gonadotrophin-dependent) can also be associated with hypomelanosis of Ito.
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PMID:Hypomelanosis of Ito associated with precocious puberty. 1637 80

Gastroesophageal reflux disease can have variable manifestations including regurgitation, irritability, arching, choking, and apnea. The disorder is also frequently mistaken for seizures (Sandifer syndrome). We report 6 patients in whom the opposite phenomenon occurred: their seizures were mistaken for gastroesophageal reflux disease. Six of 77 patients (6.8%) with gelastic seizures and epilepsy symptomatic of hypothalamic hamartomas were noted to be misdiagnosed with gastroesophageal reflux disease in infancy. As is typical in these patients, gelastic seizures were not diagnosed until months, or often years, later. Delayed diagnosis of hypothalamic hamartomas can lead to a potentially deleterious syndrome involving refractory epilepsy, developmental problems, and precocious puberty. Gelastic seizures should be considered among the conditions that can mimic reflux symptoms.
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PMID:Gelastic seizures misdiagnosed as gastroesophageal reflux disease. 1747 90