Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome

Abstract

Lesch–Nyhan syndrome is an x‐linked genetic disorder of purine metabolism that results in the overproduction of uric acid and neurologic deficits manifesting as intellectual disability, dystonia, other movement disorders and self‐mutilation. We describe a 12‐year‐old patient with a history of Lesch–Nyhan syndrome, G6PD deficiency and central diabetes insipidus and multiple admissions for fever, acute kidney injury and transaminitis in the setting of rhabdomyolysis. The patient's temperature dysregulation and dysautonomia is likely attributable to abnormal neurotransmitter release, particularly that of dopamine, in the central nervous system. Our patient presented similarly to that of a patient with neuroleptic malignant syndrome (NMS), with symptoms including altered mental status, fever, dysautonomia and renal failure, and laboratory findings including elevated serum creatinine kinase, leukocytosis, transaminitis, hypernatremia and metabolic acidosis. Similar to NMS, disruption of dopamine neurotransmission results in dysregulated sympathetic activity and hyperthermia.

Recurrent Fevers, Dysautonomia, and Dehydration in a Patient With Lesch-Nyhan Syndrome

“…Dysautonomia is a rare but life-threatening manifestation of LNS. Here, we add to the existing literature on this phenomenon as described [ 2 , 3 ].…”

“…Importantly, this would not explain why our patient's episodes increased in frequency at age 23 without any clear trigger. In our review, one other patient began experiencing episodes at a similar age, and two others at seven years of age [ 2 , 3 ].…”

“…Recently, cases of paroxysmal autonomic insufficiency in LNS patients manifesting as extreme hyperthermia, hypotension, tachycardia, and tachypnea have been reported, drawing attention to this underrecognized feature of the disease [ 2 , 3 ]. Surprisingly, these episodes were accompanied by concurrent neuroleptic malignant syndrome (NMS)-like symptoms [ 2 , 3 ].…”