Oliver Hardwell, 3, from Bristol suffers from a rare strain of Pontocerebellar
Hypoplasia (PCH) called Encephalopathy Fatal Infantile.
Autosomal-recessive mutations in the tRNA splicing endonuclease subunit TSEN15 cause pontocerebellar
hypoplasia and progressive microcephaly.
After many tests, Moira was diagnosed with pontocerebellar
hypoplasia Type 2A, a rare disease caused by an inherited mutation that interferes with the growth of the cerebellum, the brain hub that coordinates muscle movements, and the pons, part of the brain stem.
Each ISSNHL patient was electively examined for multiple sclerosis and intracranial tumors with magnetic resonance imaging, especially for pontocerebellar
A computed tomography (CT) scan of the head showed severe microcephaly with intracranial volume loss, including thinning of the cortical mantle, and callosal and pontocerebellar
hypoplasia with ex vacuo ventriculomegaly.
Tumour locations were: frontal (3), parietooccipital (2), parietal (1), temporal (1), occipital (1), thalamic (1), pontocerebellar
angle (1), cerebellar tentorium (1), ambient cistern (1).
Due to abnormal course of acoustic trauma, the patient was referred to pontocerebellar
angle MRI with gadolinium.
The pontine basal nuclei are oriented toward the contralateral cerebellum via the transverse pontine fibers and MCPs, which constitute the pontocerebellar
Contralateral ataxia in pontine strokes has been explained in the setting of injury of pontine neurons and their pontocerebellar
Hot cross bun sign refers to the cruciform shaped pontine T2 hyperintensity in multiple system atrophy due to selective loss of myelinated transverse pontocerebellar
fibers and neurons in the pontine raphe and sparing of the pontine tagmentum and corticospinal tracts.3,6 Though hot cross bun sign is seen often in MSA, it is not pathognomonic but only a supportive sign on clinical background.7
An obstructive dilatation of the third and fourth ventricle with clear signs of edema in the posterior fossa and pontocerebellar
cisterna could be noticed.
This mutation, found at heterozygous state in all the patients, their mother, and their aunt, was reported to affect mRNA metabolism and cause the autosomal recessive pontocerebellar
hypoplasia type 1C .