Nail-Patella Syndrome Associated with Respiratory Chain Disorder

Abstract

Nail-patella syndrome (NPS) has not been described to be associated with a respiratory chain disorder (RCD) before. In a 42-year-old man with the typical phenotype of an NPS, weakness and wasting of the shoulder girdle muscles, muscle cramps, fatigability, hyperhidrosis, chest pain and creatine kinase elevation were observed. Echocardiography revealed left ventricular hypertrabeculation. Needle electromyography was myopathic, lactate stress testing was abnormal, muscle biopsy showed typical features of an RCD and mtDNA analysis revealed the A3243G MELAS mutation. In conclusion, this case demonstrates that NPS may be randomly associated with RCD. NPS patients should undergo detailed cardiological and neurological investigations, in order not to overlook a double trouble partially mimicking NPS.

Noncompaction on Cardiac MRI in a Patient with Nail-Patella Syndrome and Mitochondriopathy

“…That LVHT in the presented patient was exclusively due to MMP is supported by the fact that LVHT has been previously described to be associated with MMP and that LVHT has not been observed in NPS [2,4]. However, there is no study that systematically investigated NPS patients for LVHT.…”

“…Muscle biopsy disclosed typical morphological features of MMP. Analysis of the mtDNA, extracted from the muscle homogenate, disclosed an A 1 G transition at nucleotide 3243 [4].…”

Neuromuscular implications in left ventricular hypertrabeculation/noncompaction

“…LVHT was also found in his 50-year-old brother, who carried the same mutation and also presented with LHON, Wolff-Parkinson -White syndrome, myocardial thickening, and LVHT [64]. LVHT was further detected in a 42-year-old male with nail-patella syndrome who also had weakness and wasting of the shoulder girdle muscles, muscle cramps, easy fatigability, and hyperhydrosis [66]. In addition to the LMX1B mutation, he carried the A3243G mtDNA mutation [66].…”

“…LVHT was further detected in a 42-year-old male with nail-patella syndrome who also had weakness and wasting of the shoulder girdle muscles, muscle cramps, easy fatigability, and hyperhydrosis [66]. In addition to the LMX1B mutation, he carried the A3243G mtDNA mutation [66]. LVHT was further described in a 38-year-old patient with double vision, epilepsy, recurrent pancreatitis, diarrhoea, dysarthria, myopathy, and polyneuropathy due to the mtDNA transition A8381G [70].…”

LMX1B 17-bp Deletion and A3243G mtDNA Transition in a Previously Described Patient

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Recently, we described a 45-year-old man with the typical phenotypic features of nail-patella syndrome (NPS, dysplastic nails, bilaterally dysplastic patellae, subluxation of the radial head, hypoplastic triceps muscles, antebrachial pterygium, 'iliac horns') [1], who developed chronic renal failure in 1975 due to glomerulonephritis [2]. In 1987 he underwent thyroidectomy and chemotherapy because of a C-cell carcinoma.

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