Table 3 Differential diagnostic options for PCH.

Genetic diseases with cerebellar hypoplasia and/or atrophy and variable cerebral cortical atrophy

PCCA

Progressive Cerebello-cerebral atrophy, progressive microcephaly, spasticity, seizures, mental retardation and seizures.

Missense mutations in SEPSECS.

Selenocysteine synthesis

[53]

ICCA

Severe atrophy of cerebrum and cerebellum. Psychomotor retardation, clonus, seizures, spasticity, progressive microcephaly.

Missense mutations in MED17

Transcripition initiation

[54]

CDG type 1A and 1D

Hypotonia, ataxia, developmental delay, failure to thrive, microcephaly.

PMM2 (type1a), ALG3 (type 1d)

Glycoprotein biosynthesis

[55, 56]

Phosphoserine aminotransferase deficiency

Low CSF concentrations of serine and glycine, seizures, progressive microcephaly, hypertonia and psychomotor retardation. White matter immaturity and cerebral atrophy.

PSAT

Serine biosynthesis

[59]

Different congenital mitochondrial disorders

Respiratory chain deficiencies plus several other abnormalities.

-

n/a

[60]

PEHO-syndrome

Progressive cerebellar atrophy, progressive encephalopathy, hypsarrythmie, edema and optic atrophy.

Unknown

Unknown

[62, 63]

Genetic diseases with cerebellar hypoplasia plus neocortical dysplasia

Dystroglanopathies: Walker-Warburg syndrome, MEB-disease, Fukuyama

Neocortical dysplasia. Mental retardation, eye abnormalities, seizures, impaired motor control.

FKRP, LARGE, POMGNT1, POMT1, POMT2, FKTN

Dystroglycan synthesis

[64, 65]

Lissencephaly

Lissencephaly phenotype.

RELN

Neuronal migration

[67]

X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

Microcephaly, optic atrophy, sensorineural hearing loss, simplified gyri, developmental delay.

CASK

Neuronal migration; Part of MAGUK protein family, involved in signaling in both, pre- and post-synapses.

[66]

Congenital fibrosis of the extraocular muscles 3 with extraocular involvement

Ocular motility disorder, facial weakness, axonal peripheral neuropathy, delayed development, neocortical dysplasia and other neuronal migration disorders.

TUBB3

Neuronal migration

[68, 69]

Acquired cerebellar hypoplasia

Extreme prematurity (< 32 weeks)

Extreme prematurity.

n/a

n/a

[70]