BGDD

8

male

Patient's complaints: • Pigmentation of the whole body from the age of 2 years • Inability to walk from the age of 5 years • Watering from eyes and speech problem for the same duration Patient's medical history: • No significant past illness • Born at home normally with healthy skin • Development was appropriate up to the age of 5 years • Gradually became unable to walk and finally bedridden • Speech was nasal in character Examination findings: • Mildly anaemic • Pigmentation present all over the body, more prominent on exposed surfaces like face, limbs, and neck • Eye examination revealed ptosis, periocular hyperpigmentation with normal visual acuity • No optic atrophy and pigmentation in fundus • Conscious, cooperative, and followed vocal commands but social interaction was poor • Cranial nerves were intact • Hypertonia and hyper-reflexia, more marked in lower limb, with extensor plantar response • Gait was spastic • Sensory function was intact • Cerebellar function showed nystagmus, incoordination of movement, and intention tremor • No organomegaly, other systems were normal MRI findings: • Olivo-pontocerebellar degeneration • Mildly enlarged basal cistern, cerebellar fissure • Mildly dilated 4th ventricle, enlarged CSF space • Cerebellar atrophy Skin biopsy: • Biopsy showed mildly acanthotic epidermis • Basal layer showed focal increase in melanin pigments • Dermis revealed melanophages

ACTH, cortisol normal; serum iron normal; TIBC levels normal

Conservative management: • Avoidance of sun exposure by wearing long sleeve shirts and pants • Use of sunglasses and sunscreens with SPF of 30 • Restricted outdoor activities Consultation advised: • With dermatologist every 3-6 months for early detection of skin cancer • Regular eye examination by ophthalmologist • Genetic counseling advised

3

female

• Pigmentation in the whole body • Onset at age 2 • More prominent pigmentation on exposed surfaces like face and extremities Normal findings: • Hair, nail, and teeth • Intelligence and mental status appropriate for her age • All other systemic findings were normal. Skin biopsy: • Biopsy showed mildly acanthotic epidermis • Basal layer showed focal increase in melanin pigments • Dermis revealed melanophages

Hb% normal; TC normal; DC normal; ESR normal; Urine normal; Lipid profile normal; liver function normal; renal function tests normal; serum electrolytes normal

Conservative management: • Avoidance of sun exposure by wearing long sleeve shirts and pants • Use of sunglasses and sunscreens with SPF of 30 • Restricted outdoor activities Consultation advised: • With dermatologist every 3-6 months for early detection of skin cancer • Regular eye examination by ophthalmologist • Genetic counseling advised

X-ray of chest, skull, USG of the whole abdomen and ECG were within normal limits.