Table 1.
Demographic details of the cohort
| Case ID | Sex | Diagnosis | Presentation | Disease duration | Age at death | Brain weight, g |
|---|---|---|---|---|---|---|
| KD1 | Male | KD | Failure to thrive and developmental delay at 6 months, later developed frequent apnoea and vomiting, spastic quadriplegia, microcephaly and visual loss. Diagnosis by clinical impression and later confirmed by post-mortem demonstration of absent galactocerebrosidase activity in cortex. | 4 months | 10 months | 660 |
| KD2 | Male | KD | Central hypotonia and head lag at 4 months, developmental delay and persistent crying noted at 5.5 months and later developed seizure-like activity. Diagnosis confirmed by reduced galactocerebrosidase activity. | 6 months | 10 months | ND |
| KD3 | Female | KD | Status epilepticus following chest infection at 2 months, followed by developmental delay and feeding difficulties. Later developed central hypotonia and spasticity, then epileptic encephalopathy. Diagnosis confirmed by reduced galactocerebrosidase activity and genetic testing indicated homozygous 30-kb deletion in exons 11 through 17 of GALC gene. | 10 months | 12 months | 690 |
| KD4 | Male | KD | Following vaccination at 5 months developed enteritis followed by restlessness and crying, followed by spastic tetraplegia, opisthotonos, apnoea and continuous crying. Later developed generalized myoclonus, aspiration episodes, bradycardia and pneumonia, against backdrop of progressive failure to thrive. Diagnosis was made by neuropathological examination but a sibling later demonstrated reduced galactocerebrosidase activity. | 10 months | 15 months | 730 |
| C1 | Male | SIDS | Parent awoke to find infant unresponsive in their arms, pronounced dead on arrival at hospital. SIDS diagnosed due to absence of obvious cause of death on post-mortem examination. | NA | 3 months | 640 |
| C2 | Male | Hypoxic-ischaemic encephalopathy | Hypoxia-ischaemia due to prolonged labour, died after 1 month in the Special Care Baby Unit. | 1 months | 1 months | ND |
| C3 | Female | SIDS | Parents discovered deceased in bed. SIDS diagnosed due to absence of obvious cause of death on post-mortem examination. | NA | 20 months | ND |
| C4 | Male | SIDS | Parents discovered deceased in cot. SIDS diagnosed due to absence of obvious cause of death on post-mortem examination. | NA | 2 months | 570 |
| DLB | Male | DLB | Presented with visual hallucinations and cognitive fluctuations, diagnosed with DLB. | 4 years | 81 years | 1331 |
C = control; KD = Krabbe disease; NA = not applicable; ND = not determined; SIDS = sudden infant death syndrome.