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PubMed1974

Defective growth hormone secretion in primary microcephaly.

The 24 hr variations of plasma growth hormone (GH) and/or GH secretion provoked by oral glucose load or by insulin-induced hypoglycemia were studied in five microcephalic children. Low levels of GH and, especially, complete lack of secretory episodes were detected in three of the five children, two of whom were brothers. GH deficiency may constitute the principal or a contributing factor of impaired growth in some microcephalic children. A possible association between the cerebral abnomality and the pituitary hypofunction is suggested. An analogy is made between the present cases and the neuroendocrine complexes reported as Kallmann's and de Morsier's syndromes, respectively.

Child↗
PubMed1986

The protective effects of vitamin E against microcephaly in rats X-irradiated in utero: dendritic branches.

Fetuses from rats given either water or 0.03% dl-alpha-tocopherol acetate (vitamin E) as the drinking fluid and X-irradiated with 100R on gestational day (gd) 13 were examined on gd 21. The degree of dendritic branching of frontal cerebral neurons, examined after Golgi staining, was significantly reduced by X-irradiation, and supplementation of vitamin E caused increased branching order numbers in irradiated fetuses. This study provides evidence of the protection by vitamin E of neuronal development in X-irradiated fetuses.

Abnormalities, Radiation-Induced↗
PubMed2000

Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.

We describe four Italian patients (aged 3, 4, 12, and 13 years ) affected by a novel autosomal form of recessive congenital muscular dystrophy. These patients were from three non-consanguineous families and presented an almost identical phenotype. This was characterized by hypotonia at birth, joint contractures associated with severe psychomotor retardation, absent speech, inability to walk and almost no interest in their surroundings. In addition, all patients had a striking enlargement of the calf and quadriceps muscles. Ophthalmologic examination revealed no structural ocular abnormalities in any of the children; one patient had severe myopia. In all cases a magnetic resonance imaging of the brain showed an abnormal posterior cranial fossa with enlargement of the cisterna magna and variable hypoplasia of the vermis of the cerebellum. Abnormality of the white matter was also present in all patients, in the form of patchy signal most evident in the periventricular areas. Serum CK was grossly elevated in all. The muscle biopsy from all cases showed dystrophic changes compatible with congenital muscular dystrophy. Immunofluorescence studies showed mild to moderate partial deficiency of laminin alpha 2 chain. Linkage analysis in the only informative family excluded the known loci for congenital muscular dystrophy, including laminin alpha 2 chain on chromosome 6q2, the Fukuyama congenital muscular dystrophy locus on 9q3 and the muscle-eye-brain disease on chromosome 1p3. We propose that this represent a novel severe variant of congenital muscular dystrophy, with associated central nervous system involvement.

Adolescent↗