A rare genetic disorder characterized by cerebellar ataxia (nervous system disorder that causes unsteadiness and incoordination) and pancytopenia (shortage of all types of blood cells).
* Incoordination * Unsteadiness * Underdeveloped bone marrow * Bleeding * Infections * Cerebral atrophy
The wise clinician should consider a neurologic referral at the outset. If there is vertigo, tinnitus, or deafness, then an audiogram and caloric testing should be done. If these suggest eighth nerve damage, then a CT scan or MRI of the brain should be done. Headaches, sustained nystagmus, or papilledema are other indications for a CT scan or MRI. If multiple sclerosis is suspected, MRI of the brain is very useful, as well as spinal fluid for gamma globulin and myelin basic protein. Perhaps VEP, brain stem evoked potential (BSEP), or SSEP studies should be done. If vascular disease is suspected, magnetic resonance angiography will allow assessment of the vertebral-basilar arteries. If this is not available, four-vessel cerebral angiography may be utilized. Patients with hypoactive reflexes and glove and stocking hypoesthesia and hypalgesia will need a neuropathy workup . When there is ataxia in the presence of a normal neurologic examination, referral to a psychologist for psychometric testing should be done.
Prognosis of Myelocerebellar disorder: early death in some, survival to adulthood in others
* In most cases, the treatment will be supportive * Exogenous toxins should be stopped and removed * Neoplasms, abscesses, hemorrhage require neurosurgical evaluation and intervention * Patients with Friedreich ataxia and mitochondrial disease need cardiac evaluation * Miller-Fisher variant of Guillain-Barré syndrome –Usually has a very good prognosis –IV immunoglobulin or plasmaphoresis may be used * Opsoclonus/myoclonus syndrome –Treated with steroids, ACTH, or IVIG –Neuroblastoma needs surgical evaluation * ADEM: Treat with high-dose intravenous steroids * AVED: Treat with vitamin E * Biotinidase deficiency: Treat with biotinidase * Hartnup disease: Treat with niacin * Refsum disease: Dietary restriction of phytanic acid * Epidosic ataxia: Treat with acetazolamide