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)

A 2 1/2 year old mentally retarded Dutch boy, suffering from epilepsy, hydrocefalus, generalised hypotonia, degenerative signs of the eyes and teeth and characteristic pigment disturbances of the skin is described. The complete picture fits in the syndrome of Ito's hypomelanosis, also called incontinentia pigmenti achromians. This is a neurocutaneous syndrome or an ectodermal dysplasia.
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PMID:[A patient with Ito's hypomelanosis, also called incontinentia pigmenti achromians]. 668 62

This is an 11 month old girl who has been referred to our institute for a seizure disorder. Her physical examination showed angiomas on the left side of her face, and more extensive and prominent ones on her palms and soles. Her right face and arm were smaller than the left, associated with hypotonia and moderate weakness in the right forearm. Computerized tomography of head showed intracranial calcification in the left fronto-parietal region, and brain MRI, with gadolinium, revealed an extensive leptomeningeal angioma over the entire left hemisphere. This case was diagnosed as Sturge-Weber syndrome with unusual cutaneous manifestations.
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PMID:Sturge--Weber syndrome: report of an unusual cutaneous distribution. 1008 56

Haploinsufficiency of RASA1, located on chromosome 5q14.3, has been identified as the etiology underlying the disorder capillary malformation-arteriovenous malformation (CM-AVM). Recently, haploinsufficiency of MEF2C, located 1.33 Mb distal to RASA1 on chromosome 5q14.3, has been implicated as the genetic etiology underlying a complex array of deficits including mental retardation, hypotonia, absent speech, seizures, and brain anomalies. Here we report a patient who is haploinsufficient in both RASA1 and MEF2C who presents with dermatologic and neurologic abnormalities that constitute a 5q14.3 neurocutaneous syndrome. This finding highlights the need to assess for CM-AVM in patients with neurologic features consistent with MEF2C haploinsufficiency, and vice versa.
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PMID:5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C. 2162 78

The authors report a case of choroid plexus papilloma in a girl with hypomelanosis of Ito, and they review the literature in brief. Hypomelanosis of Ito is a rare neurocutaneous syndrome characterized by cutaneous hypopigmented whorls, streaks, and patches along lines of Blaschko. Most patients exhibit CNS manifestations, including psychomotor retardation, seizures, hypotonia, and ataxia. A 6-year-old girl with hypomelanosis of Ito was referred to the authors' hospital with bilateral tumors in the lateral ventricles. The right lateral ventricle tumor was surgically removed. Immunohistochemical investigations revealed the tumor to be a choroid plexus papilloma (WHO Grade I). A chromosomal investigation revealed that the tumor tissue demonstrated a large loss of heterozygosity at chromosome 10. The case reported here serves as a reminder that de novo brain tumors may arise in patients with chromosomal mosaicism.
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PMID:Choroid plexus papilloma in a girl with hypomelanosis of Ito. 2279 65

Deletions within chromosome region 5q14.3q15 have been associated with a spectrum of disorders including developmental delay, hypotonia, absent speech, mild facial dysmorphism, seizures, and brain anomalies. Some cases of concomitant neurologic abnormalities and cutaneous vascular malformation associated with 5q14.3 deletion have been reported. Previously reported cases had similar features, including multiple capillary malformations, and neurologic abnormalities, including epilepsy, hypotonia, and developmental delay. We report a case of 5q14.3 neurocutaneous syndrome presenting with multiple capillary malformations, neurologic abnormalities, and microdeletion in chromosome 5q14.3.
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PMID:5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation-Arteriovenous Malformation Syndrome and Neurologic Findings. 2829 45