Hypoplasia ponto-neocerebellaris

Abstract

In an otherwise healthy family three male infants fell ill with microcephaly, hypotonus of the muscles, non-specific hyperkineses, seizures, and rapid mental deterioration. In addition to microdysplasia in the cerebral cortex the main neuropathological findings were the separation of the dentate nucleus into many islets, an atypical band of the inferior olives, and deficiency of the pontocerebellar fibers in the basal part of the pons. The hypoplasia of the areas involved can be distinguished from the degenerative process in the dégénérescence systematisé optico-cochleo-dentelé (Nyssen-van Bogaert).

Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

“…In retrospect this may have been the first documented case on PCH type 2. Pfeiffer and Pfeiffer first reported the extrapyramidal component [5-8]. Barth et al .…”

The syndrome of autosornal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2)

“…[8][9][10][11][12][13][14][15][16] Infants with this type of PCH typically display signs of neuromuscular weakness, as well as central motor symptoms. These reports do not provide useful information on neurologic behavior and development.…”

Severe, fetal‐onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

“…The brain MRI findings are a somewhat distinctive ''butterfly cerebellum'' in those patients who survive infancy [Barth et al, 1995;Uhl et al, 1998]. Neuropathology in infantile patients usually includes a normal brain weight, gliosis and fragmentation of the dentate, relative sparing of olives (although decreased convolution and even thickened, C-shaped olives have been described in some patients [Brouwer, 1924;Peiffer and Pfeiffer, 1977;Simonati et al, 1997;Vossbeck et al, 1997]), relative sparing of the vermis, and immature foliation of the cerebellum [Uhl et al, 1998]. On the basis of the severe course, low brain weight even in the earliest patient, relative affectation of the vermis, and normal foliation of the cerebellum, we believe that our patients are unlikely to have PCH-2 although without molecular evidence we cannot exclude that they represent a severe manifestation of the PCH-2 spectrum (see below).…”

“…PCH-2 is an autosomal recessive disorder showing the key finding of progressive microcephaly, in addition to PCH and an extrapyramidal movement disorder, typically chorea, which may later evolve into dystonia [Biemond, 1955;Peiffer and Pfeiffer, 1977;Barth et al, 1995]; [OMIM #277470]. Hypertonia and tremulousness are common in reported early infantile patients, with hyperthermic crises and seizures also occurring frequently.…”

“…2A, left panel). Retention of the fetal olivary configuration has been described in Trisomy 18, Zellweger Syndrome, Joubert Syndrome, Trigonocephaly C syndrome [Harding, 1992], Monakow-type microcephaly [Kramer, 1956;Thurel and Gruner, 1960], dentatoolivary dysplasia [Martland et al, 1997], PCH-1 [Chou et al, 1990], and PCH-2 [Brouwer, 1924;Peiffer and Pfeiffer, 1977;Robain et al, 1987;Simonati et al, 1997;Vossbeck et al, 1997]. While the C-shape represents hypoplasia of this structure, the thickening of the cell band is not part of the normal [Zecevic and Rakic, 1976;Yew et al, 1995] and rapidly become functionally mature [Crepel et al, 1976;Mariani and Changeux, 1981].…”