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Cerebellar hypoplasia is a rare embryonic developmental disorder in which the cerebellum is either missing entirely or is smaller than usual. It may be genetic or occur sporadically. Cerebellar hypoplasia may be caused by thyroid abnormalities, environmental influences such as drugs and chemicals or viral infections or stroke. Cerebellar hypoplasia may be associated with other disorders including Dandy-Walker syndrome, spinal muscular atrophy and Walker-Warburg syndrome and CASK Gene Mutation. This disorder has also been known to be a symptom of Acutane embryopathy and Meckel syndrome.
The first known case of cerebellar hypoplasia was discovered in the year of 1940. The patient died at the age of 76. After his body was unclaimed, the body became property of the London Hospital for dissection. During dissection, the patient was discovered to have no cerebellum. This unique case was appropriately named “human brain without a cerebellum” and was used every year in the Department of Anatomy at Cambridge University in a neuroscience course for medical students.
Signs and Symptoms
Symptoms may include poor feeding, developmental delay, hypotonia, ataxia, seizures, intellectual disability and involuntary eye movements (nystagmus). At later ages, symptoms include headache, vertigo, imbalance, and hearing impairment.
There is no standard course of treatment for cerebellar hypoplasia. Treatment is symptomatic and supportive. Balance rehabilitation techniques may benefit those experiencing difficulty with balance. Treatment is based on the underlying disorder and the symptom severity.
For the Pontocerebellar hypoplasia caused by a CASK gene defect the above is incorrect. The following values seem to be aberrant in children with CASK gene defects: lactate, pyruvate, 2 ketoglutarate, adipic acid, suberic acid which seems to backup the thesis of Konark Mukherjee that CASK affects mitochondrial function. (see publication below) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4075472/ MCT oil is being provided to a number of children de dato 25/08/2014, the effects on their blood values is not yet known. It however seems wise that the children are seen by a doctor specialized in mitochondrial dysfunction.
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.
- Lemon, R. N., & Edgley, S. A. (2010). Life without a cerebellum. Oxford journals, 133(3), 652-654. Retrieved from http://brain.oxfordjournals.org/content/133/3/652.full
- Sensory Learning (2009) Cerebellar Hypoplasia Sensory Learning.com