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Titre du document / Document title

Severe lethal spinal muscular atrophy variant with arthrogryposis

Auteur(s) / Author(s)

KIZILATES Sevim Ünal (1) ; TALIM Beril (2) ; SEL Kutay (3) ; KÖSE Gulsen (4) ; CAGLAR Melda (2) ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

(1) Neonatal Intensive Care Unit, Diskapi, Ankara, TURQUIE
(2) Department of Child Neurology, Diskapi, Ankara, TURQUIE
(3) Social Security Children's Hospital, Diskapi, Ankara, TURQUIE
(4) Department of Pediatrics, Pediatric Pathology Unit, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, TURQUIE

Résumé / Abstract

Spinal muscular atrophies are a clinically and genetically heterogenous group of disorders. Atypical forms of the disease have also been described, including those with associated sensory deficits, hearing loss, cerebellar hypoplasia, congenital heart defects, arthrogryposis, and bone fractures at birth. The patient described here is a male infant, born to a 30-year-old mother at 34 weeks of gestation complicated with polyhydramnios. The first son of consanguineous parents had died with the same clinical features. The patient required ventilatory support because of respiratory failure after the birth and died on day 13. His physical examination revealed profound generalized hypotonia, absence of deep tendon and neonatal reflexes, dysmorphic facies, arthrogryposis, clinodactyly, and left femur fracture. A muscle biopsy revealed variation in fiber size with occasional hypertrophic fibers. The postmortem examination revealed loss and degeneration of anterior horn cells. We propose that the patient, who presented with severe hypotonia, femur fracture, arthrogryposis, dysmorphic features, history of early death of his brother with the same clinical features and parental consanguinity, had probable X-linked spinal muscular atrophy. However, autosomal-recessive inheritance can not be completely excluded.

Revue / Journal Title

Pediatric neurology    ISSN  0887-8994 

Source / Source

2005, vol. 32, no3, pp. 201-204 [4 page(s) (article)] (19 ref.)

Langue / Language

Anglais

Editeur / Publisher

Elsevier, New York, NY, ETATS-UNIS  (1985) (Revue)

Mots-clés anglais / English Keywords

Diseases of the osteoarticular system

;

Congenital disease

;

Central nervous system disease

;

Neuromuscular diseases

;

Spinal cord disease

;

Degenerative disease

;

Spinal amyotrophy

;

Arthrogryposis

;

Nervous system diseases

;

Mots-clés français / French Keywords

Système ostéoarticulaire pathologie

;

Maladie congénitale

;

Système nerveux central pathologie

;

Neuromusculaire pathologie

;

Moelle épinière pathologie

;

Maladie dégénérative

;

Amyotrophie médullaire

;

Arthrogrypose

;

Système nerveux pathologie

;

Mots-clés espagnols / Spanish Keywords

Sistema osteoarticular patología

;

Enfermedad congénita

;

Sistema nervosio central patología

;

Neuromuscular patología

;

Médula espinal patología

;

Enfermedad degenerativa

;

Amiotrofía medular

;

Artrogriposis

;

Sistema nervioso patología

;

Localisation / Location

INIST-CNRS, Cote INIST : 22170, 35400012690856.0110

Nº notice refdoc (ud4) : 16634238



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