Abstract
We reviewed 45 children with cerebellar hypoplasia on magnetic resonance imaging to
identify clinical features associated with cerebellar hypoplasia. We then studied
children presenting with any likely associated clinical feature of cerebellar hypoplasia
previously observed or reported. Two hundred fifty-one children, with one or more
of these features, exhibited no cerebellar hypoplasia on imaging. We compared the
children with cerebellar hypoplasia with those without cerebellar hypoplasia. Logistic
regression and Pearson’s χ2 test were used.
Of the 45 children with cerebellar hypoplasia, 39 exhibited developmental delay; 24,
speech delay; 25, seizures; nine, microcephaly; 22, hypotonia; 22, ataxia and impaired
coordination; four, abnormal movements (tremor or titubation); 13, hypertonia; eight,
autistic features; and 18, ocular signs (nystagmus, strabismus, and abnormal ocular
movements). Statistically significant clinical features of children with cerebellar
hypoplasia compared with those without were development and speech delay, microcephaly,
abnormal movements, ataxia and impaired coordination, autistic features, hypotonia,
and ocular signs. The regression combination of speech delay, ataxia, hypotonia, autistic
features, and ocular signs correctly predicted 86% of those with cerebellar hypoplasia.
Main clinical features of cerebellar hypoplasia are developmental or speech delay,
autistic features, ataxia, hypotonia, and ocular signs.
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References
- Relationship between cerebellar appearance and function in children with Dandy-Walker syndrome.Pediatr Neurosurg. 1995; 23: 86-92
- Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10.Neuropediatrics. 1995; 26: 41-44
- Late intrauterine cytomegalovirus infection.Pediatr Neurol. 1996; 15: 249-253
VolpeJJ Viral. Protozoal and related intracranial infections. In: Neurology of the newborn, 3rd ed. Philadelphia: WB Saunders 1995:675-729
- Cerebellar involvement in metabolic disorders.Paediatr Neuroradiol. 1998; 40: 347-354
- Humane cerebellar hypoplasia, a syndrome of diverse causes.Arch Neurol. 1980; 37: 300-305
- Absence complete du cervelet, des pedoncules posterieurs et la protuberance cerebrale chez une jeune fille morte dans sa onzieme annee.Bull Soc Anat. 1831; 5: 148-157
- Clinical features of developmental disability associated with cerebellar hypoplasia.Pediatr Neurol. 1996; 15: 224-229
- Central nervous system malformations in perinatal/neonatal autopsy series.Pediatr Dev Pathol. 1998; 1: 42-48
- Genetic disorders and cerebellar structural abnormalities in childhood.Brain. 1997; 120: 1739-1751
- Cerebellar agenesis.Brain. 1994; 117: 1209-1212
- The cerebellar cognitive affective syndrome.Brain. 1998; 121: 561-579
- Cerebellum and procedural learning.Brain. 1997; 120: 1753-1762
- Memory in patients with cerebellar degeneration.Neurology. 1993; 43: 1536-1544
- Cognitive planning deficits in patients with cerebellar atrophy.Neurology. 1992; 42: 1493-1496
- Cerebellum in attention-deficit hyperactivity disorder.Neurology. 1998; 50: 1087-1093
- Autosomal recessive congenital cerebellar atrophy.Brain Dev. 1993; 15: 439-445
- The contribution of the cerebellum to mental and social functions in developmental age.Fiziol Cheloveka. 2000; 26: 27-31
- The brain in infantile autism.Neurology. 1994; 44: 214-223
- Cognitive impairments in patients with congenital non-progressive cerebellar ataxia.Neurology. 1999; 53: 966-974
- Symmetrical hypogenesis of the cerebellum.Acta Neurol Scandinav. 1970; 46: 642-647
- Non-progressive familial congenital cerebellar hypoplasia.J Neurol Sci. 1995; 128: 71-77
- Cerebellar hemispheric agenesis.Acta Neuropathol. 1987; 74: 202-206
- Autosomal recessive cerebellar hypoplasia and endosteal sclerosis.Am J Med Genet. 1991; 41: 464-468
- Autosomal recessive cerebellar hypoplasia.J Child Neurol. 1989; 4: 189-193
Article info
Publication history
Accepted:
December 17,
2002
Received:
April 23,
2002
Identification
Copyright
© 2003 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
