Table 1. Summary of clinical findings in Arab patients with Krabbe disease.
| Origin | Phenotype | Age of onset | PN | Clinical presentation (PN) | Method of diagnosisb | Reference |
|---|---|---|---|---|---|---|
| Muslims and Druze | EIKD | 4–11 m | 12 | Irritability (4), lack of movement (2), regression (5), fever (1), tremor (2), head lag (10), increased deep tendon reflexes (4), and decreased deep tendon reflexes (3), elevated CSF (7) | Clinical, enzymatic | Zlotogora et al3 |
| Muslims and Druze | EIKD | 5–11 m | 18 | Motor regressions (12), hypotonia (2), fever (2) irritability (9), decreased tendon reflexes (14), elevated CSF (13) | Clinical | Zlotogora et al32 |
| Muslim Arab | NA | 22 wk | 1a | NA | Prenatal (CVS) | Zlotogora and Reshef63 |
| Muslims and Druze | EIKD | 3–5 m | 8 | Poor focusing (4), hypertonia (4), areflexia (1), head lag (1), seizures (2), hypertonia (1), scissoring (1), irritability (5), optic pallor (1), peripheral neuropathy (2) | Molecular, enzymatic | Korn-Lubetzki et al6 |
| Saudi Arabia | LIKD | 2.6 y | 1 | Developmental delay, microcephaly, difficulty to soothe, poor head control, truncal hypotonia associated with mild spasticity of the extremities, increased deep tendon reflexes, mild brain atrophy, and elevated CSF | Enzymatic, FDG PET scan | Al-Essa et al64 |
| Tunisia | EIKD | 3–5 m | 3 | Cerebral cry (2), fever (1), irritability (2), hypertonia (3), hyperreflexia (3), clonus (2), hypotonia (1), optic atrophy (3), nystagmus (3), motor deterioration (3), elevated CSF (2) | Clinical, enzymatic | Fiumara et al5 |
| Morocco | LOKD | 66 y | 1 | Motor weakness in lower limbs predominating on flexor muscles, urinary dysfunction, dementia, mental retardation, and spastic paraparesis | Clinical, molecular | Debs et al20 |
Abbreviations: CSF, cerebrospinal fluid, the increase in the amount of CSF is a clinical indicator for diagnosis of KD30; CVS, chorionic villus sampling; EIKD, early infantile form of Krabbe disease; FDG PET, Fluorine-18-labeled-2-fluoro-2-deoxyglucose positron emission tomography scan; LIKD, late infantile Krabbe disease; LOKD, late onset Krabbe disease; NA, not applicable; PN, number of patients studied or showing symptoms.
a
This patient was captured during prenatal diagnosis at the 22nd week.
b
Molecular diagnosis involved sequencing of the GALC gene and biochemical (enzymatic) diagnosis involved the in vitro measurement of GALC activity in either cultured leukocytes or fibroblasts from Krabbe disease patients.