Challenges managing end‐stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya disease

Abstract

Moyamoya disease is a chronic cerebrovascular disorder with progressive stenosis. We describe a four-yr-old female with features of moyamoya disease referred to our center for kidney transplant evaluation with ESRD secondary to presumed renal dysplasia along with concern for cerebral vascular anomalies. With her constellation of organ involvement, a genetic workup revealed a homozygous, frameshift mutation in the mitochondrial methionyl-tRNA formyltransferase gene. Given her vascular anomalies and evidence of prior infarcts seen on cerebral imaging, it was felt that her risk of future stroke events was high and that hypotension or intravascular volume depletion would further exacerbate this risk. In hopes of improving her tenuous cerebral perfusion, she underwent a bilateral temporal craniotomy for superficial temporal artery to middle cerebral artery bypass. We highlight the challenges faced in a child with ESRD and kidney transplantation when cerebral vasculature is compromised. A multidisciplinary approach is critical in determining the need for a revascularization procedure prior to transplant and to help reduce the risk of ischemic or hemorrhagic events in this patient population.

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

“…Four of these patients had extensive white matter abnormalities identified on MRI head (P1, P24, P28 and P31), one had a normal MRI head and MR spectroscopy at the age of 4 years (P37), and one patient had multiple ischaemic stroke changes with neurovascular imaging showing changes suggestive of Moyamoya disease (P19). 19 The median age of patients with either basal ganglia or brainstem abnormalities was significantly older than those without any changes (16.5 vs. 5 years, P = 0.04).…”

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT

“…Most of them presented with ataxia, muscular hypotonia, and cognitive impairment, but recently reported cases support an expanding phenotypical spectrum, including MRI features mimicking demyelinating disease, cardiomyopathy, and even an association with renal dysplasia and moyamoya disease in a 4-year-old child. 6,9–12 Recently, a girl was reported with mild neurologic phenotype at age 7 years and involvement of the visual pathways starting at the age of 18 years. 13 MTFMT -patients with adolescent-onset symptoms are rare.…”