Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Epidermal nevus syndrome is one of the sporadic congenital hamartoses in which neurologic abnormalities have been frequently reported. We report two cases with severe primary brain involvement, seizures, mental retardation, and facial hemihypertrophy. We emphasize the superiority of magnetic resonance imaging over other radiographic studies in outlining the primary central nervous system anomalies associated with this syndrome. Although attempts were made to distinguish between several variants of epidermal nevus syndrome, it is clear that these are one entity. Proteus syndrome, encephalocraniocutaneous lipomatosis, and epidermal nevus syndrome have several overlapping phenotypic features. We suggest that they represent a phenotypic continuum, which in turn suggests a common pathogenetic process. While the cause of these syndromes is unknown, observations point to a somatic mutation leading to variable patterns of mosaicism.
 ...
PMID:Epidermal nevus syndrome: subgroup with neuronal migration defects. 155 48

A patient with Proteus syndrome is reported. He had hemihypertrophy, bilateral hypertrophy of the third fingers, skin anomalies, and varicosities, as well as mental retardation, seizures resistant to anticonvulsant treatment, and a very severe course with death at the age of 2 years.
 ...
PMID:Proteus syndrome: report of a case with severe brain impairment and fatal course. 235 6

Proteus syndrome is a rare hamartomatous syndrome with a variety of abnormalities. A 6-year-old Japanese boy without apparent abnormalities at birth developed by 1 year of age cerebriform skin tumors on the right sole, soft masses on the left sole, palms and fingers, brownish verrucous lesions and whorled brownish patches on the right side of the neck, chest, external genitals and extremities, hemihypertrophy of the right lower extremity, lordoscoliosis, protuberance of the skull, epileptic seizures, hydrocephalus and mental retardation. This patient appears to be the second Japanese case of Proteus syndrome.
 ...
PMID:Proteus syndrome. 787 27

Encephalocraniocutaneous lipomatosis is a rare neurocutaneous syndrome characterized by lipomatous hamartomas ranging in size from a few millimeters to several centimeters and affecting the head. Ocular anomalies and a variable degree of mental retardation with or without convulsions are usually observed. This disorder should be distinguished from other mosaic neurocutaneous phenotypes such as Proteus syndrome, oculocerebrocutaneous syndrome, and nevus sebaceous syndrome. We report the clinicopathologic findings of a 4-year-old Brazilian girl affected by this syndrome and review the literature. To our best knowledge, this is the first documented case of encephalocraniocutaneous lipomatosis occurring sporadically in South America.
 ...
PMID:Encephalocraniocutaneous lipomatosis: a new case report and review of the literature. 1065 2

Encephalocraniocutaneous lipomatosis, or Haberland syndrome, is a rare congenital neurocutaneous disease. It is characterized clinically by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye, ipsilateral porencephalic cysts with cortical atrophy, cranial asymmetry, marked developmental delay and mental retardation. This syndrome should be distinguished from other mosaic neurocutaneous phenotypes such as as Delleman syndrome, Schimmelpenning syndrome, Goltz syndrome, Goldenhar syndrome and Proteus syndrome. Here we report a case of Haberland syndrome with bilateral involvement which underscores the extreme heterogeneity of clinical presentation of this and related syndromes.
 ...
PMID:Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement. 1282

Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease. In addition, PTEN mutations have been described in a few patients with autism spectrum disorders (ASDs) and macrocephaly. In this study, we screened the PTEN gene for mutations and deletions in 88 patients with ASDs and macrocephaly (defined as >or=2 SD above the mean). Mutation analysis was performed by direct sequencing of all exons and flanking regions, as well as the promoter region. Dosage analysis of PTEN was carried out using multiplex ligation-dependent probe amplification (MLPA). No partial or whole gene deletions were observed. We identified a de novo missense mutation (D326N) in a highly conserved amino acid in a 5-year-old boy with autism, mental retardation, language delay, extreme macrocephaly (+9.6 SD) and polydactyly of both feet. Polydactyly has previously been described in two patients with Lhermitte-Duclos disease and CS and is thus likely to be a rare sign of PTEN mutations. Our findings suggest that PTEN mutations are a relatively infrequent cause of ASDs with macrocephaly. Screening of PTEN mutations is warranted in patients with autism and pronounced macrocephaly, even in the absence of other features of PTEN-related tumor syndromes.
 ...
PMID:Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. 1742 95

The authors report two cases of Brazilian children with most of the common syndromic features of Proteus syndrome, such as asymmetric overgrowth of tissues, skin abnormalities, hypotonia and mental retardation. In both patients, a refractory epilepsy, compatible with Ohtahara syndrome, as well as hemimegalencephaly, with asymmetric distribution of facial fat, were also diagnosed.
 ...
PMID:Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases. 1808 31