| Popis: |
Hyperpigmentary disorders are commonly encountered group of dermatoses in the paediatric age group. One of the most common causes of progressive generalised hyperpigmentation in paediatric population is nutritional vitamin B12 deficiency (NVBD). NVBD can present with a bunch of signs and symptoms like skin hyperpigmentation, pallor and regression of neurodevelopment. We report a case of a plump looking 13 months old, girl child from non-consanguineous marriage of low socioeconomic family who presented with generalised hyperpigmentation, failure to thrive and regression of mile stones. Physical examination revealed anaemia and sparse, thin, lustreless hair with dull, apathetic look. A differential diagnosis of Addison’s disease, hypothyroidism, and neurodegenerative disease, was considered based on clinical suspicion. She was further investigated by a paediatrician. Her blood investigations revealed low levels of Vitamin B12 (159 pg/dl) and haemoglobin (2.6 g/dl). On radiological examination, NCCT brain showed cortical atrophy. A final diagnosis of Infantile Tremor Syndrome (ITS) was made. ITS is a rare condition which presents with cutaneous manifestation like hyperpigmentation, scanty scalp hair along with lethargy, apathy along with signs and symptoms of neurodegeneration. Progressive cutaneous hyperpigmentation in a child can present as early marker of a rare neurodegenerative condition like ITS. |
