Table 1 The characteristics of six reported cases of HIBCH deficiency with cerebellum atrophy, including the present case.
From: Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants
Reference | This case | François et al.3 | Marti-Sanchez L et al.5 | |||
|---|---|---|---|---|---|---|
Patients No | 1 | 2 | 3 | 4 | 5 | 6 |
Pathogenic variants | c.T782C:p.(Leu261Pro) | c.913 A > G p.(Thr305Ala) | c.913 A > G p.(Thr305Ala) | c.365 A > G p.(Tys122Cys) | c.365 A > G p.(Tys122Cys) | c.517+1 G > A |
c.1012-1 G > A | c.913 A > G p.(Thr305Ala) | c.913 A > G p.(Thr305Ala) | c.365 A > G p.(Tys122Cys) | c.365 A > G p.(Tys122Cys) | c.353 T > C p.(Phe188Ser) | |
Clinical data | ||||||
Genetic origin | Japan | No data | No data | Spain | Spain | Spain |
Sex | Male | Male | Female | Male | Female | Male |
Age of onset | 10 months | 3 years | 2 years | 4 years | 6 years | 4 years |
Presentation at onset | Leigh-like syndrome | Exercise-induced paroxysmal dyskinesia | Febrile neurological decompensation meningo-encephalitis | Leigh syndrome | Leigh syndrome | Leigh syndrome |
Psychomotor delay | + | + | – | No data | No data | No data |
Cognition disorders | + | + | + | No data | No data | No data |
Abnormal ocular movements | Nystagmus | – | – | Nystagmus | Nystagmus | – |
Movement disorders | Dystonia Ataxia Athetosis | Exercise-induced paroxysmal dyskinesia Dystonia | Dystonia Choreoathetosis Hypokinesia | Ataxia | Dystonia Ataxia Spasticity | Dystonia Spasticity |
Other symptoms | Dysarthria Spastic paraparesis Hypotonia Failure to thrive Visual dysfunction | – | Feeding difficulties Visual dysfunction Hypotonia Spasticity Limbs hypertonia Irritability | Ptosis Strabismus | – | Hypotonia Feeding difficulties Visual dysfunction Hearing loss |
Reccurrent episodes of neurological involvement | – | No data | No data | – | Acute encephalopathy | Acute encephalopathy and respiratory distress |
Seizure | – | – | + | – | – | West syndrome |
Evolution | Alive at 11 years | Alive at 11 years | Alive at 9 years | Alive at 18 years | Alive at 15 years | Alive at 8 years |
GMFCS score | III | I | IV | IV | IV | No data |
Brain imaging data | ||||||
Leigh syndrome | + | – | + | + | + | + |
Basal ganglia | Globus pallidus | Globus pallidus | Globus pallidus | Globus pallidus | Globus pallidus Candate Putaman | Putaman |
White matter involvement | – | – | + | + | – | – |
Cerebral atrophy | – | – | – | – | – | – |
Cerebellum atrophy | + | + | + | + | + | + |
Brain Spectroscopy | No data | No data | ↓NAA, lactate peak | No data | No data | No data |
Biological data | ||||||
Acylcarnitine profile | Normal | No data | Normal | ↑C4-OH | ↑C4-OH | ↑C2 ↑ C3 |
Plasma amino acids | Normal | Normal | ↑Thr, Ala, Gly | Normal | Normal | ↑Ala |
↑23DH2MB | – | No data | No data | – | – | – |
↑3-hydroxy-isovaleric acid | + | No data | No data | No data | No data | No data |
Hyperlactatemia | – | – | + | + | – | + |
Mitochondrial respiratory chain | Normal | No data | Normal | ↓C1 | ↓C1 | ↓C1-3 |
↓PDHc activity | No data | No data | + | No data | No data | + |
↓enzymatic activity | No data | No data | + | No data | No data | No data |
