Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

A female child with mild dysmorphisms, motor and mental retardation had a 45,XX,-8,-8,+psu dic(8)(p23.3) karyotype in blood lymphocytes, skin fibroblasts and in a lymphoblastoid cell line. DNA analysis showed that the proposita was nullisomic for the 8pter region distal to D8S264, at less than 1 cM from the telomere. Analysis of DNA polymorphisms of 38 loci spread along the entire chromosome 8 revealed that only maternal alleles were present, distributed in four heterozygous and four homozygous regions. This finding indicated that the rearrangement occurred during maternal meiosis in a chromosome recombinant with a minimum of seven crossovers. To our knowledge this is the first case of uniparental maternal disomy for chromosome 8 and of nullisomy for the distal 1-cM portion of the short arm. The available data are in favour of the assumption that no imprinted genes are present on chromosome 8. Thus, dysmorphisms, motor and mental retardation of the proposita are likely to be caused by the nullisomy for the region distal to D8S264, a region in which a recessive gene for epilepsy with progressive mental retardation is known to be located.

Minipolymyoclonus in congenital nemaline myopathy: a nonspecific clinical marker of neurogenic dysfunction.

The authors report a seven-month-old boy with severe hypotonia, poor spontaneous movements, breathing difficulties and recurrent respiratory infections, dysmorphisms and a peculiar movement disorder: minipolymyoclonus (MPM), previously reported only in spinal muscular atrophies. MPM is characterized by nonrhythmic myoclonic jerks associated with a rhythmic tremor of the extended fingers polygraphically detected. A muscle biopsy showed pathological changes typical of congenital nemaline myopathy (CNM). The relationship between MPM and CNM may be explained on the presumptive basis of the "neurogenic" nature of this congenital myopathy or by the non-specificity of this clinical sign.

[Vertebrobasilar insufficiency of prenatal origin: a case report]. / Insufficienza vertebro-basilare di origine prenatale. Descrizione di un caso.

The case of a newborn presenting from birth with arthrogryposis multiplex congenita resting mainly on the legs, severe hypotonia, consciousness anomalies, clonic fits, recurrent apnea and bradycardia, absent sucking and swallowing is described. At the age 4 months a further episode of apnea and bradycardia was followed by death. The neuropathologic analysis disclosed a number of bilateral, cystic and symmetric infarcts in the thalamus and hypothalamus, spreading caudally to the tegmentum of the mesencephalon and the pons. Such distribution of lesions does suggest a vascular topography, i.e. in the territories supplied by branches of the vertebro-basilar arteries. There was light clinical and neuropathological evidence of prenatal occurrence of the vascular injuries, possibly at the end of the 7th month by a defective arterial perfusion of the fetus due to protracted menaces of premature birth. We would outline the existence and frequency of the thalamic and dorsal brain stem necrotic involvement by acute anoxia-ischemia occurring in the third trimester of gestation or at birth, and the relative peculiarity of their clinical picture.

[Neonatal spasms caused by cerebral hemorrhage in alpha 1-anti-trypsin deficiency]. / Neonatale Krämpfe infolge einer Hirnblutung bei Alpha-1-Antitrypsin-Mangel.

This paper describes a case of late neonatal convulsions due to intracranial haemorrhage in a newborn with cholestatic hepatopathy due to PiZZ homozygote alpha-1-antitrypsin deficiency. The deficiency of vitamin K dependent clotting factors, responsible for the haemorrhage, seems to be due to the cholestasis and might have been aggravated by the non-administration of vitamin K at birth and by breast feeding. The response to vitamin K therapy was good.

Partial trisomy 9 : clinical and cytogenetic correlations.

A study of three new cases with different trisomies involving chromosome 9 and a review of about 100 cases of partial trisomy 9 reported in the literature, suggested some cytogenetical and clinical correlations and lead us to propose the nomenclature of Rethore's syndrome type 1 and type 2.