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Table 1 Clinical presentation, laboratory investigation and exome sequencing result for 10 patients with undiagnosed cerebellar atrophy

From: Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

  CIE7-A1 CIE9-A1 CIE11-A1 CIE12-A2 CIE13-A1/A2 CIE16-A1 CIE17-A1 CIE-21-A1 CIE-29-A1
Gender M F F F M F F F M
Gene mutated TPP1 EXOSC3 PLA2G6 MOCS2 PLA2G6 SURF1 MFSD8 KIF1A PLA2G6
Genbank reference NM_000391.3 NM_016042.3 NM_003560.2 NM_176806.3 NM_003560.2 NM_003172.3 NM_152778.2 NM_001244008.1 NM_003560.2
Mutation cDNA level c.790C > T c.395A > C c.2070_2072del c.3G > A c.2070_2072del c.237G > A c.1213C > T c.173C > T c.1613G > A
Mutation protein level p.Q264* p.D132A p.V691del p.M1? p.V691del p.W79* p.Q405* p.S58L p.R538H
Final diagnosis CLN2 Late infantile Mild PCH type 1B PLAN/INAD Mild MoCo deficiency PLAN/INAD LEIGH SYNDROME CLN7 AD ID PLAN/INAD
Age of onset (years.months) 3.1 1 0.9 Neonatal 1.6/1.0 1 0.6 2.0 1.5
Last follow-up (years.months) 4.6 1.9 3.0 6.0 4.0/2.0 4.7 3.6 5.0 3.6
Initial symptom Convulsions Developmental delay Convulsions Developmental delay Convulsions Gait disturbance Developmental delay Gait disturbance Developmental regression
Development          
 Developmental delay + + + + + + + + +
 Motor developmental delay + + + + +/++ + + + +
 Social development delay + + + + +/++ + ++ (autistic features) + +
 Progressive condition + - Mildy progressive - + + + - +
Seizures          
 Description Focal epileptic activity GTC Focal Right-temporal discharges, GTC Left fronto-temporal epileptogenic dysfunction Focal, GTC GTC Right frontal epileptogenic focus, Akinetic fits Right-temporal activity, intractable epilepsy GTC
Neurological Findings          
 Hypotonia + + + - (Hypertonia) + + + + +
 Nystagmus - + + - + + - - +
 Wide-based, staggering gait + + Enable to walk Wide based gait + Tetubation, ataxia + Wide-based, staggering gait Tetubation,ataxia
 Peripheral neuropathy - + + - + + - + +
MRI          
 Cerebellum:Hypoplasia/Progressive or fixed Atrophy Atrophy/hypoplasia Atrophy Atrophy,hypoplasia, dilated cisterna magna Atrophy Atrophy Atrophy + abnormal signal intensity Atrophy Atrophy Atrophy
 Brainstem - - - - - Abnormal signal intensity as well as in BG - - -
 Cerebral cortex Mild cortical atrophy - - Right frontal arachnoid cyst, mild frontal lobe atrophy Mild cortical atrophy/- - Atrophy - -
 Ventricular system - - Dilated - Moderate dilatation - Mild dilatation - -
Facial dysmorphism - Squint - Mild dysmorphism - - - - -
Ophtalmologic finding Fundus exam: Macular lesion - - - - - - - -
Relevant metabolic result     High Plasma S-Sulphocysteine level and high plamsa Xhantine level (see text)   Plasma lactate in the normal range Blood ammonia: 62.2 μmol/L (normal 15–45); blood lactate: 20.6 mmol/L (normal = 0.5-2.2)   
  1. Abbreviations: GTC generalized tonic-clonic, PCH pontocerebellar hypoplasia, PLAN PLA2G6-associated neurodegeneration, INAD infantile neuroaxonal dystrophy, MoCo Molybdenum cofactor, CLN Ceroid lipofuscinosis neuronal, AD autosomal dominant, ID intellectual disability, BG basal ganglia
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172