Cerebellar hypoplasia

Signs and symptoms

Non-progressive early onset ataxia and poor motor learning are the most common presentation.

Diagnosis

Magnetic resonance imaging

Three dimensional (3D) T2-weighted (T2w), axial, coronal, sagittal magnetic resonance imaging (MRI) is considered appropriate for differentiation between gray matter and white matter acquisition of high-resolution anatomic information. T2w, axial and coronal imaging is more suitable for acquisition of high-resolution anatomic information and delineation of cortex, white matter, and gray matter nuclei. Diffusion tensor, axial imaging is used for evaluation of white matter microstructural integrity, identification of white matter tracts. CISS, axial + MPR imaging for evaluation of cerebellar folia, cranial nerves, ventricles, and foramina. Susceptibility weighted axial scans are employed for identification and characterization of hemorrhage, blood products, calcification, and iron accumulation.

Classification

Classification systems for malformations of the cerebellum are varied and are constantly being revised as greater understanding of the underlying genetics and embryology of the disorders is uncovered. A classification proposed by Patel S in 2002 divides cerebellar malformations in two broad groups: those with cerebellar hypoplasia and those with cerebellar dysplasia.

• I. Cerebellar hypoplasia
  • A. Focal hypoplasia
    • 1. Isolated vermis
    • 2. One hemisphere hypoplasia
  • B. Generalized hypoplasia
    • 1. With enlarged fourth ventricle (“cyst,”), Dandy–Walker continuum
    • 2. Normal fourth ventricle (no “cyst”)
      • a. With normal pons
      • b. With small pons i. Normal foliation
        • a) Pontocerebellar hypoplasias of Barth, types I and II
        • b) Cerebellar hypoplasias, not otherwise specified

Treatment

There is no standard course of treatment for cerebellar hypoplasia. Treatment depends upon the underlying disorder and the severity of symptoms. Generally, treatment is symptomatic and supportive. Balance rehabilitation techniques may benefit those experiencing difficulty with balance.

Prognosis

The prognosis of this developmental disorder is highly based on the underlying disorder. Cerebellar hypoplasia may be progressive or static in nature. Some cerebellar hypoplasia resulting from congenital brain abnormalities/malformations are not progressive. Progressive cerebellar hypoplasia is known for having poor prognosis, but in cases where this disorder is static, prognosis is better.

History

Following clinical report by Crouzon in 1929 Sarrouy reported two pairs of siblings with congenital cerebellar hypoplasia in 1958. However pons, pyramidal tract and corpus callosum were also involved in these cases. Wichman et al. in 1985 reported three sibling pairs with congenital cerebellar hypoplasia : Mathews KD, in 1989 also reported two cases of cerebellar hypoplasia in a family with unaffected parents suggestive of autosomal recessive inheritance. The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging with frequent reporting of posterior fossa malformation.

References

References

1. (1929). "Atrophie cérébelleuse idiotique, in Études sur les Maladies Familiales Nerveuses et Dystrophiques.". Paris: Masson.
2. (March 2010). "Life without a cerebellum". Brain: A Journal of Neurology.
3. (October 2016). "The genetics of cerebellar malformations". Seminars in Fetal & Neonatal Medicine.
4. (August 2002). "Analysis and classification of cerebellar malformations". AJNR. American Journal of Neuroradiology.
5. "Cerebellar Hypoplasia Information Page". National Institute of Neurological Disorders and Stroke (NINDS).
6. (7 March 2009). "Cerebellar Hypoplasia". Sensory Learning.
7. (1957-01-01). "[2 Cases of cerebellar hypoplasia in the same family]". Archives Françaises de Pédiatrie.
8. (April 1985). "Autosomal recessive congenital cerebellar hypoplasia". Clinical Genetics.
9. (July 1989). "Autosomal recessive cerebellar hypoplasia". Journal of Child Neurology.
10. (2015-02-01). "Congenital abnormalities of the posterior fossa". Radiographics.