Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two unrelated children with congenital central hypoventilation syndrome (CCHS-Ondine syndrome) and long segment Hirschsprung disease are reported. Patient 1, a girl, is still alive at 3 years. Patient 2, a boy, died of viral pneumonia at 5.5 years. Continuous mechanical ventilation was necessary for months and those children could never be weaned from the respirator during sleep. Seventeen cases of this complex neurocristopathy are reviewed. Only six children (including our cases) survived beyond 2 years of age. Hypotonia, delay in developmental milestones or epilepsy were frequently observed. Ventilator dependency does not improve with time. Multifocal congenital neuroblastoma occurred in two children. Aetiology is unknown.
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PMID:Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature. 844 12

Ondine's curse or central alveolar hypoventilation (CCAH) syndrome is a disorder of the autonomic nervous system resulting in respiratory dysregulation. The clinical outcome is typically poor, with few individuals living into adulthood and even fewer surviving to adulthood with normal neurological function. Our patient initially presented following an uncomplicated delivery with hypotonia, poor respiratory effort, and hypoxemia that required ventilatory support. Laboratory workup, radiographic evaluation, and ancillary testing ruled out brain stem lesions, neuromuscular diseases, cardiovascular and pulmonary disease, and metabolic disorders, resulting in a diagnosis of CCAH syndrome. The patient underwent tracheotomy and chronic ventilatory support. Close long-term management and appropriate treatment modifications have provided for an excellent outcome and good quality of life. The patient is currently 22 years old and is earning her teaching degree for K-12 art education. A combination of early recognition and a multidisciplinary approach may lead to a successful outcome in patients with CCAH syndrome.
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PMID:Congenital central alveolar hypoventilation syndrome (Ondine's curse) with survival into adulthood. 1859 75

Males with methyl-CpG-binding protein 2 (MECP2) mutations may present with neonatal encephalopathy. We report on an infant with a MECP2 mutation who exhibited complex constellation of symptoms, including severe hypotonia, respiratory failure, and apneic episodes. In the neonatal period these symptoms are common to other disorders, including Ondine syndrome. Our observation confirms that the triad of severe hypotonia, apneic episodes, and respiratory failure may be caused by MECP2 mutations. Neonatologist and neuropediatricians must be alert to the presence of these symptoms to exclude this rare but severe disorder. Clinical suspicion and molecular confirmation of MECP2 mutation is of great importance for defining the diagnosis of this rare affection.
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PMID:Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. 2249 13