Endocrine Abstracts

Introduction: Mitochondrial encephalopathy, lactic acidosis and stroke like episodes (MELAS) is one of the most studied and described mitochondrial disorder. However, the markedly variable presentation, particularly among paediatric patients makes diagnosis challenging. Here, we report an unusual manifestation of MELAS in a patient evaluated for short stature with growth hormone deficiency.

Case presentation: A 15 years old female, born out of non- consanguineous marriage, presented with poor height gain since the age of 10 years and absent secondary sexual characteristics with hearing difficulty. Anthropological assessment revealed a height of 133 cm (-3.86 SDS) and weight of 22.2 kg (-4.12 SDS), with proportionate short stature and no eunuchoidism (arm span 135 cm). Bone age was 11 years. Physical examination showed dry, flaky hairs, triangular facies, high-arched palate, and hypertrichosis with Tanner stage 1 for pubertal development. Laboratory findings demonstrated anaemia of chronic disease, elevated lactate (7.8 mmol/l), and low IGF-1 (61.97 ng/ml). She was euthyroid, eucortisolemic with basal LH and FSH levels of 1.74 and 1.33 m IU/l respectively. Growth hormone stimulation test with clonidine was non-stimulated (Peak value-3.73 ng/ml). MRI brain revealed bilateral basal ganglia calcification and cerebellar atrophy. Whole mitochondrial genome sequencing identified a mutation in MT-LT1 gene (n.14A>G variant), confirming MELAS syndrome. Retrospectively, patient had no history of stroke and encephalopathy and no complaints of muscle weakness. Patient was started on growth hormone therapy with CoQ-10 for its neuroprotective effects with plan to observe pubertal progression after correction of underlying conditions.

Conclusion: The presented case exemplifies the diverse and often subtle manifestations of MELAS syndrome. Despite absence of overt stroke-like episodes or muscle weakness at the time of evaluation, the early recognition of MELAS based on these atypical features underscores the importance of considering mitochondrial disorders in cases of unexplained growth failure, endocrine dysfunction, and subtle neurological symptoms.