Table 1 General clinical findings of the selected group patients (n = 60)
Disorder | Number | Clinical key findings |
|---|---|---|
1. Hypoxic ischemia injury (HII) | 39 (65%) | Varying degree of encephalopathy according to its severity |
2. Metachromatic leukodystrophy | 6 (10%) | Autosomal recessive (AR), motor signs of acute peripheral neuropathy, deterioration in intellect, speech, and coordination, gait disturbance, quadriplegia in 2, and blindness in 1 patient. Death occurred in 2 patients of them after 6 months of initial admission. |
3. BTBGD | 4 (6.7%) | AR, early onset encephalopathy (before the age of 4 years), and febrile illness progress to acute encephalopathy, dystonia, ataxia, and seizures and death if the patients were not treated with biotin and thiamine supplements |
4. Leigh disease | 4 (6.7%) | Hypotonia, ataxia, ptosis, ophthalmoplegia, and dystonia |
5. Periventricular leukomalacia (PVL) | 3 (5%) | Premature (33–36 weeks of gestation) all showed delayed milestones |
6. MELAS | 2 (3.3%) | Healthy at birth with early normal development, then growth delay, seizures, episodic vomiting, and recurrent cerebral stroke-like insult |
7. Non-ketotic hyperglycinemia | 2 (3.3%) | Acute encephalopathy shortly after delivery |
Total | 60 |