Research Highlights: Living Human Seems To Have Missing Cerebellum

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Living Human Found To Have Missing Cerebellum

  • The cerebellum is responsible for many motor functions.
  • Cerebellar agenesis is a condition in which the cerebellum is completely missing.
  • There is a lack of information regarding the development of the disease.
  • A 24-year-old female patient was admitted to a hospital due to dizziness and walking problems for more than 20 years.
  • The patient also complained of vomiting and nausea for about a month.
  • The patient’s parents and siblings had no history of neurological disorders.
  • According to her mother, she started to walk without help by the age of 7, and she never ran nor jumped.
  • Her speech was only comprehensible at the age of 6.
  • A neurological test revealed she was able to cooperate and orientate.
  • Verbal analysis showed that her word comprehension and expression are not impaired.
  • She had mild-moderate cerebellar dysarthria but no signs of aphasia.
  • She speaks with mild voice tremor with slurred pronunciation.
  • Some of her movements were slightly irregular and slowed.
  • She has evidence of tandem gait and reduction of gait speed.
  • No focal paresis was observed but muscle tone is increased.
  • The sensory system was observed to be normal, no finger or toe deformities, and urinalysis and blood count were normal.
  • CT scan revealed that cerebellar structures are not recognizable.
  • Cranial MRI revealed that the posterior fossa is filled with cerebrospinal fluid.
  • The mesencephalon, pons, and medulla oblongata were detected.
  • The medulla oblongata was reduced and hindbrain herniation was not detected.
  • She was diagnosed with complete primary cerebellar agenesis.
  • She experienced relief of symptoms with dehydration therapy and non-surgical management.
  • Prior to this study, only 8 living cases have been reported.
  • Primary cerebellum agenesis is linked to a high mortality rate.
  • Based on the family history, primary cerebellum agenesis may not be heritable.
  • The disease does not usually require surgery and heteropathy treatment would give a good outcome.
  • Researchers concluded that the cerebellum is required for normal motor, language functional, and mental development.

Source:

Feng Yu, Qing-jun Jiang, Xi-yan Sun, Rong-wei Zhang, A new case of complete primary cerebellar agenesis: clinical and imaging findings in a living patient, Brain, Volume 138, Issue 6, June 2015, Page e353, https://doi.org/10.1093/brain/awu239

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