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

Spinal epidural abscesses are rare, accounting for only 0.2-1.2 of every 10,000 hospital admissions. Because they often present with non-specific symptoms, they are frequently misdiagnosed. We present a case in which superconduction MRI was used to make the diagnosis and to follow the clinical course of a spinal epidural abscess. In December 1988, a 33-year-old male developed spiking fever and the sudden onset of torticollis. He had had a cerebral palsy from birth, with chronic tetraparesis and mental retardation. Isolation of staphylococcus aureus in urine and blood cultures confirmed the diagnosis of pyelonephritis and septicemia. A high fever persisted despite antibiotic therapy commenced immediately. A technetium 99 m scan showed a localized uptake of isotope in the cervical spine. An MRI examination performed in the following day under sedation showed a mass with the same signal intensity as muscle on T1-weighted images. It was located behind the vertebral bodies C1-Th1 compressing the spinal cord. In addition, a lesion with a decreased signal was also evident in the C5-C6 vertebral bodies. Because of torticollis, the patient was unable to keep his head still for a sufficient period of time, to obtain T2-weighted imaging. The MRI findings indicated the presence of a spinal epidural abscess and osteomyelitis. A second MRI done one month after admission showed a reduction in the size of the epidural mass, but further diminishing of the signal intensity of the vertebral lesion. One month later, the patient underwent the surgical removal of the pus and inflammatory soft tissue, and anterior fusion. The torticollis resolved following the operation.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Spinal epidural abscess as the cause of torticollis--diagnosis by magnetic resonance imaging]. 204 5

Growth data--stature, body weight, occipito-frontal circumference (OFC), ear length and mean testicular volume (MTV)--in 61 males with the fragile X syndrome are presented. Small increases in the mean OFC and ear length and large increases in the MTV were found. The overgrowth of the head was evident in childhood. The characteristic facial appearance was deemed to be present in 60% of the subjects and was recognizable in childhood. Macro-orchidism (MTV of greater than or equal to 30 ml) was present in 80% of the adults but none of the children. Five subjects had a cleft palate, 11 serious eye disorders (3 with congenital nystagmus), and 4 had torticollis and/or kyphosis. Limited information on development suggested that mental retardation was present from early life and was not progressive. Although 3 subjects were autistic (2 with self abuse) most were pleasant, even tempered and cooperative men and boys.
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PMID:The fragile X syndrome II: preliminary data on growth and development in males. 671 94

We describe a 7-year-old boy presenting with mental retardation and hyperactivity. Clinical features include microcephaly, hypertelorism, epicanthic eye folds and antimongoloid slant. He also has large ears, large hands and feet, and torticollis. The karyotype was 46, XY, r (22) (p13q13). In situ hybridisation studies with a subtelomeric probe for distal 22q confirmed that the ring was deleted causing partial monosomy of 22q.
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PMID:Ring chromosome 22 resulting in partial monosomy in a mentally retarded boy. 1048 83

Episodic ataxia type 2 is a rare autosomal dominant disease characterized by recurrent attacks of vertigo and cerebellar ataxia. The disease was caused by mutations in the CACNA1A gene, on chromosome 19p. We perform a mutational screening in a group of 43 unrelated patients. Forty-two patients presented episodes of disequilibrium and ataxia, and one child was studied because of the occurrence of episodic torticollis. The genetic analysis showed 15 mutated patients (35%). In 13 cases we found novel CACNA1A gene mutations, including missense, protein truncating, and aberrant splicing mutations. Two truncating mutations lead to the uppermost premature stop so far reported, challenging recent hypotheses on dominant negative effect. In patients without CACNA1A mutations, molecular testing for CACNB4 gene mutations excluded this genetic subtype. Clinical features of mutated subjects mostly confirmed previous sign and symptoms associated with EA2, including paroxysmal torticollis and mental retardation. CACNA1A mutated patients have an earlier age at onset, interictal nystagmus, and abnormalities of ocular movements. A review of all CACNA1A mutations so far reported showed that they are mainly located downstream exon 18. Our data substantially increase the number of the described CACNA1A mutations, and propose clinical and molecular criteria for a more focused genetic screening.
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PMID:Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 2012 25