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

We examined the clinical, molecular and genetic features of a 16-year-old boy (XP2GO) with xeroderma pigmentosum (XP) and progressive neurological symptoms. The parents are not consanguineous. Increased sun sensitivity led to the diagnosis of XP at 2 years of age and a strict UV protection scheme was implemented. Besides recurrent conjunctivitis and bilateral pterygium, only mild freckling was present on his lips. He shows absent deep tendon reflexes, progressive sensorineural deafness and progressive mental retardation. MRI shows diffuse frontal cerebral atrophy and dilated ventricles. Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or Cockayne syndrome (cachectic dwarfism, cataracts, pigmentary retinopathy and spasticity) were absent. XP2GO fibroblasts showed reduced post-UV cell survival (D(37) = 3.8 J/m(2)), reduced nucleotide excision repair, reduced expression of XPD mRNA and an undetectable level of XPD protein. Mutational analysis of the XPD gene in XP2GO revealed two different mutations: a common p.Arg683Trp amino acid change (c.2047C>T) known to be associated with XP and a novel frameshift mutation c.2009delG (p.Gly670Alafs*39). The latter mutation potentially behaves as a null allele. While not preventing neurological degeneration, early diagnosis and rigorous sun protection can result in minimal skin disease without cancer in XP patients.
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PMID:Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). 1863 29

The aim of this study was to evaluate ocular findings in children with nonsyndromic cleft lip and palate. Fifty-seven consecutive patients with cleft lip and/or palate seeking orthodontic treatment during 2006 were examined prospectively from an ophthalmological standpoint. Mean age of the patients was 9.2 years (range: 15 days to 18 years). Of the 57 children in total, five cases (8.7%) had cleft lip, six cases (10.5%) had isolated cleft palate and 46 cases (80.7%) had both cleft lip and palate. Thirty-seven of 46 cases with cleft lip and palate were unilateral and 20 were bilateral. Eleven of the 57 patients (19.1%) had ocular findings including congenital nasolacrimal duct obstruction (5 patients), ptosis (1 patient), bilateral iris coloboma (1 patient), dermoid tumor (1 patient), vernal conjunctivitis (1 patient), and esophoria (1 patient). Twenty patients (35%) had one or more systemic abnormalities such as motor mental retardation, hearing loss, syndactylia, growth retardation, double urinary tract, vesicoureteral reflux, penile nevus, hypospadias, non-redundant testis, inguinal hernia, mitral valve prolapsus, ventricular septal defect, complete right bundle branch block, and hirsutism. Though not very often, cleft lip and palate patients may have several associated ocular changes, and these patients should also be examined by ophthalmologists.
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PMID:Ocular findings in children with nonsyndromic cleft lip and palate. 1995 Aug 42

Patients with severe biotinidase deficiency (BD), if untreated, may exhibit seizures, psychomotor delay, deafness, ataxia, visual pathology, conjunctivitis, alopecia, and dermatitis. Clinical features normally appear within the first months of life, between two and five. Seizures are one of the most common symptoms in these patients (55%), usually presented as generalized tonic-clonic, and improving within 24 h of biotin treatment. Treatment delay has been associated with irreversible neurological damage, mental retardation, ataxia, paraparesis, deafness, and epilepsy exceptionally.We report the case of a girl who was admitted at 2.5 months because of vomiting, failure to thrive, flexor spasms, dermatitis, and neurological depression for 1 month. BD was identified and was treated with biotin, stopping seizures and improving symptoms. Developmental delay, paraparesis, optic atrophy, and seizures during febrile illness were observed at follow-up. At the age of 8, she suffered hemigeneralized seizures despite appropriate biotin treatment, so levetiracetam was administered, and epilepsy was controlled. Organic acid measurement was performed to determine whether the child was receiving enough or no biotin.Even though BD is a rare condition, because the biotinidase screening is a reliable procedure and the disorder is readily treatable, the implementation of extended biotinidase screening will effectively help to prevent any acute and long-term neurological problems as well as the significant morbidity associated with untreated disease. In addition, neonatal screening and early treatment with biotin prevents severe neurological sequelae, such as epilepsy, which has not been thoroughly described in the literature.
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PMID:Epilepsy in biotinidase deficiency after biotin treatment. 2343 Aug 99