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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors studied 10 patients aged between six and 23 years (mean age 14 years 5 months) with magnetic resonance imaging, which detected bilateral 'macrogyric-like' maldevelopment of the insulo-opercular regions. The data confirm that biopercular gyral anomaly, associated with mental retardation, pseudobulbar palsy (cortical or central) and epilepsy, represents an anatomo-clinical syndrome. Nevertheless, a wide clinical spectrum was found varying from pictures correlating with the topography and extent of the MRI-detected anomaly to conditions indicating wider cerebral involvement. Epilepsy, varying greatly in age at onset and severity, consistently influenced the prognosis for five patients with diffuse EEG abnormalities and intractable seizures with falls. Anterior callosotomy relieved such seizures in one case.
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PMID:Neurological findings and seizure outcome in children with bilateral opercular macrogyric-like changes detected by MRI. 164 32

Twenty-four medically refractory seizure patients, who did not qualify for excisional surgery, had anterior two-thirds corpus callosum section. Three to 11 years' postoperative follow-up suggests that this procedure can (1) lateralize a frontal lobe focus, which may lead to subsequent localized excision and (2) significantly reduce seizure frequency and severity in 75% of the patients without giving any permanent neurologic deficits. Patients with an ictal focus confined to one frontal lobe did best (8/8 improved), followed by patients with secondarily generalized seizures and multifocal bilateral foci (5/6 improved). Patients with mental retardation benefited less frequently (5/10 improved), but 4/4 from this group with ictal falls associated with Lennox-Gastaut syndrome did benefit. In this series, the improvements following the anterior partial section were lasting if present at 1 year of follow-up. Anterior corpus callosum section should be considered as a diagnostic (lateralizing) and therapeutic option in appropriately defined medically refractory patients who do not qualify for excisional surgery.
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PMID:Results of anterior corpus callosum section in 24 patients with medically intractable seizures. 339 67

Two autopsy cases of congenital muscular dystrophy of Fukuyama type (F-CMD) were described. The first case was diagnosed clinically and pathologically as its typical case. Neither his family history nor the history of his prenatal period were contributory. He had suffered from muscle weakness and atrophy since his birth. Serum CPK was markedly elevated. EMG and muscle biopsy proved dystrophic changes of the skeletal muscles. In addition, he manifested mental retardation and attacks of convulsion. EEG failed to elicit remarkable changes, but PEG represented ventricular dilatation. He died of respiratory insufficiency at age 12. His postmortem examination showed variegated anomalies in the nervous system. Extensive micropolygyria was present in the cerebrum and cerebellum accompanied by adhesions between the bilateral cerebral hemispheres. Assymmetry of the longitudinal fibers was pointed out in the pontine base. Anterior horn cells were atrophic and moderately depopulated. On the other hand, the second patient was an atypical F-CMD case in symptoms, signs and pathology. His grand-mothers on both father's and mother's sides wee first cousins. His three siblings showed no similar disorders. His mother developed slight gestational toxicosis in the sixth and seventh months of pregnancy. His muscle weakness, contracture of the bilateral hip-joints and clubfoot had been observed since his birth. Physical and neurological examinations at age 6 showed deformity of the skull, myopathic face, macroglossia, high-arched palate, pigeon chest, scoliosis of the thoracic spine. In addition, generalized muscular atrophy, hypotonia and areflexia were recognized. Pseudohypertrophy of the muscles was absent. Sensation was intact to all modalities. Serum CPK and LDH were moderately increased.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[2 autopsy cases of congenital muscular dystrophy of Fukuyama type--a typical and an atypical cases]. 652 23

Anterior cervical hypertrichosis or hairy throat is a rare dysmorphic sign described in a total of 19 patients so far. The association with a number of additional features has been reported, including mental retardation. We report on another patient with this condition who also had moderate mental retardation, mildly dysmorphic facial features, obesity, hypermetropia and additional hair anomalies (low dorsal hair line on the neck, lumbosacral hypertrichosis). Karyotype and array comparative genomic hybridization analysis at 1 Mb resolution were normal.
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PMID:Anterior cervical hypertrichosis and mental retardation. 1676 Jul 44

Anterior cervical hypertrichosis was described by Trattner and coworkers in 1991. It consists of a <<tuft>> of hair at the anterior cervical level just above the laryngeal prominence. To date, only 28 cases of anterior cervical hypertrichosis have been reported. Although it is normally an isolated finding, it may be associated with mental retardation, hallux valgus, retinal disorders, other hair disorders, facial dysmorphism, or sensory and motor peripheral neuropathy. We report the case of a 27-year-old woman who presented with this condition as an isolated finding.
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PMID:[Isolated anterior cervical hypertrichosis]. 1988 13

Anterior cervical hypertrichosis (ACH), or "hairy throat," is a rare form of localized hypertrichosis that refers to the presence of a tuft of terminal hair on the anterior neck. Only 40 cases of ACH have been reported in the literature. Although it is usually an isolated finding, it may be associated with systemic disorders such as neurologic abnormalities (peripheral neuropathy, developmental delay, mental retardation), ophthalmologic disorders (optic atrophy, chorioretinal changes), hallux valgus, and dorsal hypertrichosis. Thus it is strongly advised to take a thorough family history and to perform clinical examinations and investigations (neurologic and ophthalmologic examination, electromyography, X-ray of the feet) in all patients with ACH to exclude possible associated abnormalities. We report the case of a 7-year-old Italian girl who presented with this condition as an isolated finding.
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PMID:Anterior cervical hypertrichosis: a case report and review of the literature. 2491 69

Anterior open bite (AOB) is one of the most difficult malocclusions to treat and maintain in orthodontics. Malocclusion occurs more frequently in children with disabilities than in healthy children. Surgical correction of severe AOB often requires maxillary impaction to reduce the anterior facial height. The zygomatic buttress area could be a valuable anchorage site to achieve intrusion of maxillary posterior teeth. A 16-year-old boy with mental retardation showing signs of persistence of infantile behavior, decreased cognitive functioning, and psychomotor skill deficits (no identified syndrome) with an AOB was treated by intrusion of maxillary posterior teeth using I-shaped multipurpose titanium miniplate (SK Surgicals, India). A 7 mm AOB was corrected after 6 months of intrusion. The benefits of this treatment as an alternative to conventional orthodontic appliances are significant in subjects who lack the understanding or with manual dexterity to use an orthopedic appliance.
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PMID:Skeletal open-bite treatment with zygomatic anchorage for a child with mental retardation: A new modality. 2916 55