Pontocerebellar hypoplasia associated with respiratory-chain defects
(1999) In Neuropediatrics 30(2). p.93-95- Abstract
Pontocerebellar hypoplasias are congenital disorders of brain morphogenesis which include such diverse etiologies as carbohydrate-deficient glycoprotein syndrome type 1, cerebromuscular dystrophies (Walker-Warburg syndrome, Fukuyama syndrome, muscle-eye-brain disease) and at least two types of autosomal recessive neurodegenerations known as pontocerebellar hypoplasia type I and II. Pontocerebellar hypoplasia type 1 is a lethal phenotype and clinical features include congenital contractures, respiratory insufficiency, central and peripheral motor dysfunction and spinal anterior horn degeneration. Type 2 is characterized by progressive microcephaly, extrapyramidal dyskinesia and normal spinal cord findings. In this paper, we describe a... (More)
Pontocerebellar hypoplasias are congenital disorders of brain morphogenesis which include such diverse etiologies as carbohydrate-deficient glycoprotein syndrome type 1, cerebromuscular dystrophies (Walker-Warburg syndrome, Fukuyama syndrome, muscle-eye-brain disease) and at least two types of autosomal recessive neurodegenerations known as pontocerebellar hypoplasia type I and II. Pontocerebellar hypoplasia type 1 is a lethal phenotype and clinical features include congenital contractures, respiratory insufficiency, central and peripheral motor dysfunction and spinal anterior horn degeneration. Type 2 is characterized by progressive microcephaly, extrapyramidal dyskinesia and normal spinal cord findings. In this paper, we describe a girl, born at 33 weeks of gestation, presenting with respiratory insufficiency and multiple contractures. MRI scan of the brain demonstrated pontocerebellar hypoplasia and cortical and diffuse periventricular white matter abnormalities. Postmortem examination showed pontocerebellar hypoplasia with extensive gliosis of the periventricular white matter and of the basal ganglia with normal spinal cord findings. Histology of skeletal muscle was normal. Biochemical analysis demonstrated multiple deficiencies of respiratory chain enzymes in skin fibroblasts. This case demonstrates a lethal phenotype of pontocerebellar hypoplasia without spinal cord abnormalities associated with a respiratory-chain disorder. The diagnostic workup in a patient whose brain image shows pontocerebellar hypoplasia should include a search for respiratory-chain impairment.
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- author
- De Koning, T. J. LU ; De Vries, L. S. ; Groenendaal, F. ; Ruitenbeek, W. ; Jansen, G. H. ; Poll-The, B. T. and Barth, P. G.
- publishing date
- 1999-01-01
- type
- Contribution to journal
- publication status
- published
- keywords
- Fetal onset, Pontocerebellar hypoplasia, Respiratory chain defects
- in
- Neuropediatrics
- volume
- 30
- issue
- 2
- pages
- 3 pages
- publisher
- Georg Thieme Verlag
- external identifiers
-
- scopus:0033033425
- pmid:10401692
- ISSN
- 0174-304X
- language
- English
- LU publication?
- no
- id
- 0c446288-e849-4718-82bf-5e677d74ef76
- alternative location
- https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-2007-973467
- date added to LUP
- 2020-03-03 19:17:13
- date last changed
- 2024-03-20 06:47:15
@article{0c446288-e849-4718-82bf-5e677d74ef76,
abstract = {{<p>Pontocerebellar hypoplasias are congenital disorders of brain morphogenesis which include such diverse etiologies as carbohydrate-deficient glycoprotein syndrome type 1, cerebromuscular dystrophies (Walker-Warburg syndrome, Fukuyama syndrome, muscle-eye-brain disease) and at least two types of autosomal recessive neurodegenerations known as pontocerebellar hypoplasia type I and II. Pontocerebellar hypoplasia type 1 is a lethal phenotype and clinical features include congenital contractures, respiratory insufficiency, central and peripheral motor dysfunction and spinal anterior horn degeneration. Type 2 is characterized by progressive microcephaly, extrapyramidal dyskinesia and normal spinal cord findings. In this paper, we describe a girl, born at 33 weeks of gestation, presenting with respiratory insufficiency and multiple contractures. MRI scan of the brain demonstrated pontocerebellar hypoplasia and cortical and diffuse periventricular white matter abnormalities. Postmortem examination showed pontocerebellar hypoplasia with extensive gliosis of the periventricular white matter and of the basal ganglia with normal spinal cord findings. Histology of skeletal muscle was normal. Biochemical analysis demonstrated multiple deficiencies of respiratory chain enzymes in skin fibroblasts. This case demonstrates a lethal phenotype of pontocerebellar hypoplasia without spinal cord abnormalities associated with a respiratory-chain disorder. The diagnostic workup in a patient whose brain image shows pontocerebellar hypoplasia should include a search for respiratory-chain impairment.</p>}},
author = {{De Koning, T. J. and De Vries, L. S. and Groenendaal, F. and Ruitenbeek, W. and Jansen, G. H. and Poll-The, B. T. and Barth, P. G.}},
issn = {{0174-304X}},
keywords = {{Fetal onset; Pontocerebellar hypoplasia; Respiratory chain defects}},
language = {{eng}},
month = {{01}},
number = {{2}},
pages = {{93--95}},
publisher = {{Georg Thieme Verlag}},
series = {{Neuropediatrics}},
title = {{Pontocerebellar hypoplasia associated with respiratory-chain defects}},
url = {{https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-2007-973467}},
volume = {{30}},
year = {{1999}},
}