Biomedical subjects
Publications and source records attributed to M Mukamel.
Of 191 children who had had infantile seborrheic dermatitis, 88 were reexamined after 10 years. One child had psoriasis, four had atopic dermatitis, and seven had seborrheic dermatitis, which suggests a link with adult seborrheic dermatitis. A familial tendency toward infantile seborrheic dermatitis was noted, as was an increased incidence of allergy within the family.
3-Methylglutaconic aciduria has been described in two distinct syndromes. In one there was deficient 3-methylglutaconyl coenzyme A hydratase in fibroblast extracts where the only clinical manifestation was retarded speech development. In the second syndrome, the enzyme activity was normal but prominent neurological deterioration was noted. We describe two siblings with 3-methylglutaconic aciduria with normal enzyme activity who had choreoathetoid movements, optic atrophy, and mild developmental delay. The boy demonstrated developmental improvement in his second year of life, and his sister developed well, with normal school performance. These patients represent a new clinical variant of the second syndrome with a relatively favorable prognosis.
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Two-hundred-and-fifty patients with juvenile diabetes mellitus aged 3-38 years, were examined for trigger finger. Thirteen patients (5%) were found to have trigger finger--10 women and 3 men aged 14-38 years (mean 26 years). The ring, middle fingers, and thumb were the most affected. Two patients had bilateral trigger finger. There was a significant correlation between duration of diabetes and trigger finger (p less than 0.001) but no correlation with the control of diabetes. Our work indicates for the first time the prevalence of trigger finger in young patients with insulin dependent diabetes mellitus.
247 patients with juvenile diabetes mellitus, aged 3-37 years, were examined for diabetic hand syndrome. 68 (27%) had 1 or more of the manifestations of diabetic hand syndrome. In 45 (18%) flexion contractures were found, 41 (17%) had skin changes resembling those of scleroderma and digital sclerosis, and 12 (5%) suffered from trigger finger. We found an association between diabetic hand syndrome and diabetes control as evaluated by serial levels of hemoglobin A1c measured during the years of follow-up. A high relative risk for microvascular complications was found in those who had diabetic hand syndrome, compared to the others. The relative risk for retinopathy was 2.5 times greater in patients with diabetic hand syndrome (p less than 0.001). These results show that diabetic hand syndrome is a common presentation of juvenile diabetes mellitus and can be utilized as a marker for some of its complications.
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Funduscopic and retinal light- and electron-microscopic findings are described in an infant with progressive neurologic deterioration leading to death. Brain autopsy findings were consistent with Leigh's disease. The retinal mitochondria showed marked degenerative changes, the cristae were almost completely destroyed and electron-dense material filled a major part of the cavity. These changes are typically described in the late stages of mitochondrial diseases but have not been described before in retinal mitochondria in a patient with Leigh's disease.
Leigh's syndrome is a degenerative nervous system disorder with well-characterized neuropathology. The clinical picture shows progressive neurologic deterioration in infancy leading to death from respiratory arrest. Mitochondrial enzymatic deficiencies are implicated in the pathogenesis of the disease. A 6-month-old male infant with progressive neurologic deterioration and brain findings at autopsy consistent with Leigh's syndrome is described.
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A child with Noonan syndrome and multiple cafe au lait spots, compatible in size and number with von Recklinghausen's neurofibromatosis, is presented. These features may represent a distinct genetic entity rather than the coincidence of two diseases.
To determine the prevalence of coagulopathy in juvenile rheumatoid arthritis, results of repeated coagulation studies obtained on 73 patients over one year were correlated with disease activity, liver function abnormalities and drug therapy. In spite of active and severe disease in the majority of these children, coagulation abnormalities developed in only 2 cases and there was no instance of clinically apparent bleeding. Although these results suggest that the development of coagulopathy is uncommon, the physician must continue to exercise vigilance for this potentially life threatening complication, especially when caring for the child with systemic disease receiving combinations of drug therapy.
Typing for HLA-A,B,C and DR antigens was performed in 61 Israeli patients with juvenile chronic arthritis (JCA) and in 120 unrelated controls. No significant associations were apparent in the overall patient group. DR5 was significantly increased in the non-Ashkenazi patients with pauciarticular onset of disease. The only three DRw8 positive patients in the study had pauciarticular onset. DR5 and DRw8 were found in 9 of 10 patients with age of onset less than 3 years. Increased frequencies of Bw50 and Cw6 were observed in patients with systemic onset. Typing for properdin factor (Bf) and glyoxylase (GLO) was carried out in 45 and 50 of the patients, respectively. No associations with alleles of the complement Bf system or the HLA linked GLO system were evident. The confirmation in the ethnically distinct Israeli population of the previously described association of DR5 with pauciarticular JCA suggests that this gene may be closely related to the disease susceptibility gene.
Four siblings in a family with a highly consanguineous background presented with an unusual combination of spastic paraparesis, muscle wasting, microcephaly, mental retardation, skeletal deformities, and cutaneous manifestations, ie, hypopigmented and hyperpigmented lesions and graying of the hair. An extensive workup including electromyography, muscle biopsy, and chromosomal analysis was unrewarding. An autosomal recessive inheritance is probable. A similar entity was recently reported from israel. The possibility that this previously unrecognized condition represents a new syndrome is suggested.
Forty-one children with transient synovitis of the hip and 10 children with Legg-Calve-Perthes disease were followed. All 41 cases of transient synovitis had a benign outcome. In this series, nine of the 10 children with Legg-Calve-Perthes disease were diagnosed upon their first roentgenographic examination. One child whose first diagnosis was transient synovitis remained symptomatic for 4 months, when he developed roentgenologic changes consistent with Perthes disease. The literature is reviewed and 455 cases of transient synovitis analyzed. Only one patient with transient synovitis developed Legg-Calve-Perthes disease after having been asymptomatic for a period of 3 months. In 17 other cases, symptoms persisted until Legg-Calve-Perthes was diagnosed. It is suggested that transient synovitis is a benign disease and that only children with protracted symptoms are at risk to develop Perthes disease.
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