One case had unilateral caloric areflexia and one had bilateral vestibular hyporeflexia, proven to be progressive in a repeat examination.
Markus Schuelke, Colin Johnson and colleagues report the identification of mutations in MEGF10 that cause infantile myopathy with diaphragmatic weakness, areflexia, respiratory distress and dysphagia.
During this admission, the patient developed progressive severe upper limb weakness, areflexia and altered sensation.
The main clinical signs encouraging the clinicians to identify brain death are brainstem areflexia and decrease in GCS.
A urologist and a neurologist examined the patient and agreed that there was bladder and rectal areflexia but no motor deficits.
The clinical sign encouraging the clinicians to think BD were brain stem areflexia (39%), decreased GCS (34.5%), absence of spontaneous breathing (17.5%) and polyuria (9%).
The clinical hallmark is progressive ataxia, generally starting before 25 years of age, as well as dysarthria, sensory neuropathy, lower limb areflexia, extensor plantar response and weakness from degeneration of dorsal columns and pyramidal tracts [17].
Complications include retinitis pigmentosa, degenerative changes in the central nervous system involving the cerebellum and long tracts, fatty diarrhea, ataxia, areflexia, demyelination, defective intestinal lipid absorption with low serum cholesterol level, intestinal malabsorption, amaurosis, retarded growth, and steatorrhea.
For Miller-Fisher syndrome, a variant of GBS, patients demonstrated ophthalmoplegia, ataxia and areflexia [8].
All had limb numbness, decreased strength, and hypo- or areflexia; 13 (87%) described "tingling" in the limbs.
For GBS, each patient demonstrated a progressive, symmetric ascending paralysis with a relative sensory sparing in more than one extremity with hypo- or areflexia [7].
