Hello doctor,
Hi. I have gone through your case details. I am with your thought process of diagnosis. Let us try symptom analysis and the clinical syndrome that patient v has. The major symptom is hyperhidrosis that is increase sweating. This can be due to primary hyperhidrosis or secondary hyperhidrosis. This is less likely primary hyperhidrosis. Generalized sweating is mostly due to an underlying systemic illness or as a side effect of medication while focal sweating is generally due to a neurologic disorder or primary hyperhidrosis. In this case, it is generalized sweating, we need to find out are there signs and symptoms of: • Infection (acute or chronic). • Neoplasia. • Metabolic/endocrine disease (diabetes, thyroid, pheochromocytoma, carcinoid). • High catecholamine state (respiratory failure, heart disease, pain, drug/ETOH withdrawal). • Drug therapy (Propranolol, antidepressants, Pilocarpine, Physostigmine). • Neurologic disease (dysautonomia, diencephalic epilepsy, hypothalamic lesion, structural brain abnormality). In your case, it has a high metabolic rate with the childhood-onset disease process. So metabolic, endocrine, and high catabolic state is likely diagnosis. In the metabolic, it is more mitochondrial metabolic disorder likely diagnosis. The mitochondrial damage results in defects in the electron transport chain can affect any tissue. Tissues requiring the highest levels of energy production are the most severely affected. Certain “red flags” which should immediately increase the suspicion of a mitochondrial disorder. These include short stature, neurosensory hearing loss, progressive external ophthalmoplegia, axonal neuropathy, diabetes mellitus, hypertrophic cardiomyopathy, and renal tubular acidosis. Hope this insight will help you. Primary hyperhidrosis. Secondary hyperhidrosis, Metabolic myopathy. Mitochondrial disorder electron chain transfer. Morvan syndrome (autoimmune). Serum lactate. Muscle biopsy for metabolic myopathy. Mitochondrial disorder. Genetic analysis. Mitochondrial disorder. As per diagnosis antioxidants, vitamin E, and Riboflavin. Avoid excessive exercise to keep hydrated.