Intellectual disability and cerebellar signs of visual impairment, nystagmus and ataxia follow the initial presentation. [rarediseases.org]

The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. [medlineplus.gov]

• Developmental Delay

  and spasticity PCH3 608027 PCLO 7q11–q21 Seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay; described only in a handful of cases.[8] CLAM-PCH, cerebellar atrophy with progressive microcephaly PCH4 225753 TSEN54 [en.wikipedia.org]

  The clinical findings, the severity of movement disorder and the developmental delay do not correlate with the degree of pontine or cerebellar hypoplasia on MRI. [rarediseases.org]

• Epilepsy

  […] neurodegenerative disease PCH2B 612389 TSEN2 3p25.2 PCH2C 612390 TSEN34 19q13.42 PCH2D 613811 SEPSECS 4p15.2 Progressive cerebello-cerebral atrophy (PCCA) PCH2E 615851 VPS53 17p13.3 Profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy [en.wikipedia.org]

  Severe chorea occurs, and epilepsy is frequent, while signs of spinal anterior horn involvement are absent in PCH type 2. The main feature distinguishing PCH type 1 from PCH type 2 is that anterior horn cells are spared in PCH type 2. [rarediseases.org]

• Small Head

  Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size (microcephaly). [medlineplus.gov]

  In most infants, there is a small head, (microcephaly) without evidence of other congenital anomalies. [rarediseases.org]

• Seizure

  [12] PCH10 615803 CLP1 11q12.1 Severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy and delayed myelination[13] Pontine and cerebellar hypoplasia is also observed in [en.wikipedia.org]

  Recurrent apnea, intractable seizures occur early in the course of this condition. [rarediseases.org]

  Many also have impaired vision and seizures. The other forms of pontocerebellar hypoplasia, designated as type 3 (PCH3) through type 10 (PCH10), appear to be rare and have each been reported in only a small number of individuals. [medlineplus.gov]

Standard Therapies Treatment The treatment of PCH is entirely symptomatic and supportive. The primary physician should serve as a medical home coordinating the care of this chronically ill child. [rarediseases.org]

Ajouter au panier En ligne Article Frontiers in neurology The Combined Efficacy of a Two-Year Period of Cybernic Treatment With a Wearable Cyborg Hybrid-Assistive Limb and Leuprorelin Therapy in a Patient With Spinal and Bulbar Muscular Atrophy: A Case [myobase.org]

Another gene that has been associated with this condition is coenzyme A synthase (COASY).[14] Treatment[edit] This section is empty. You can help by adding to it. [en.wikipedia.org]

Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations. Neuroradiology. 1996;38(7):684-7. Barth PG, Blennow G, Lenard HG, et al. [rarediseases.org]

Gastrostomy tube may be required for feeding; fundoplication may be needed to prevent aspiration. [rarediseases.org]