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M T Dotti

Publications and source records attributed to M T Dotti.

103 records · Page 6Linked to original sources
PubMed1988

Cerebro-ocular dysplasia and muscular dystrophy: report of two cases.

The authors report two cases with severe cerebro-ocular malformations and muscular dystrophy who died at 14 and 8 months of age. In both, muscular dystrophy was confirmed by EMG and high muscle enzyme values. In one case, autopsy showed severe cerebral malformation consisting of lissencephaly, hydrocephalus, agenesis of corpus callosum, chiasma and olfactory bulb and lobe, absence of pyramides and cerebellar vermis. In sections of cerebral cortex a clear absence of structural cellular organization and spongiosis of the white matter were evident. Similar disorganization was found in the cerebellum where numerous calcifications were present. The muscle showed signs of primitive muscular dystrophy. The clinical autonomy of the cerebro-ocular-dysplasia-muscular-dystrophy syndrome is discussed. The clinical and pathological data are compared with the two other similar syndromes (i.e. Fukuyama's and Warburg's diseases).

Abnormalities, Multiple↗
PubMed1985

Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study.

The authors describe the clinical, biochemical, electrophysiological and ultrastructural study of a case of Refsum's disease whose phenotype suggested other hereditary ataxias. Due to the presence of Babinski sign and optic atrophy and the absence of retinitis pigmentosa, this case can be considered atypical. Electrophysiological and ultrastructural findings confirm the variability of peripheral lesions in this hereditary polyneuropathy.

Adolescent↗
PubMedDate not supplied

Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression.

Here we report a new case in which the clinical manifestation were compatible with the phenotype described by Lujan et al. [Am J Med Genet 1984; 17: 311-22] as 'X-linked mental retardation with marfanoid habitus'. Based upon the presence of mild psychomotor retardation, epilepsy and skeletal malformations, a sister can be considered an affected carrier, whereas an older brother showed skeletal abnormalities and juvenile glaucoma. The mother had bilateral palpebral ptosis with minimal mitochondrial abnormalities at muscle biopsy.

Adolescent↗
PubMedDate not supplied

Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system.

Congenital muscular dystrophy (CMD) is one of the most frequent dystrophies of childhood, which is commonly characterized by neonatal muscle impairment with or without clinical evidence of central nervous system involvement. Several variants of CMD have been described and the disease has recently been classified into five clinically distinct forms: the two classical CMDs with and without deficit of the laminin M chain (merosin), the Fukuyama CMD described in Japanese patients and recently linked to the chromosome 9q31-33, the clinically more severe Walker-Warburg syndrome and the rare muscle-eye-brain disease described in Finnish patients. The most of these forms have central nervous system involvement. This is usually not seen in the classical merosin positive CMD, but can be very severe in the others. Here we describe a 3-year-old Mediterranean child with clinical and histopathological signs of CMD, normal expression of merosin, severe clinical and radiological evidence of central nervous system involvement without defects of neuronal migration or brain malformations and without ocular anomalies. This report suggests that new forms of CMD and cerebral involvement can still be recognized and confirms the heterogeneity of this group of infantile diseases.

Biopsy↗
PubMedDate not supplied

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited autosomal dominant condition characterized by migrane, recurrent stroke, subcortical dementia, and pseudobulbar palsy. It begins with migraine with aura in -33% of patients. CADASIL is commonly overlooked or misdiagnosed owing to its recent identification. The pathological hallmark of angiopathy is the presence of multiple, small, deep cerebral infarcts, leucoencephalopathy, and nonatherorosclerotic, nonamyloid angiopathy involving mainly small, deep perforating cerebral arteries. Changes also are present in vascular smooth muscle cells and consist in the presence of granular osmiophilic material (GOM). The defective gene in CADASIL is Notch 3, which encodes a large transmembrane receptor. Magnetic resonance imaging shows high intensity signal lesions, often confluent, and areas of cystic degeneration of subcortical white matter and basal ganglia. Diagnostic strategies in CADASIL are matter of discussions because the electron microscopic demonstration of GOM was reported in 100% of symptomatic patients of French authors, but only in 45% of a British study. GOMs are not present in presymptomatic patients.

CADASIL↗