RECURRENT ACUTE

MYOGLOBINURIA IN

CHILDHOOD

Sarah Mohamed Alfaqaih ,MD Clinical fellow ‘ inherited metabolic disease ‘ at KHMC

Content Case report Introduction Clinical presentation Work up Management and prognosis Reference

Case report (1)

A 3 years old male patient was evaluated for severe recurrent rhabdomyolysis.

He was born at term and has normal motor and cognitive development.

The first episode of rhabdomyolysis occurred at age of 16 months .

He developed an unsteady gait with eventual refusing to walk and tea colored urine.

He has had two recurrences since and has made complete recoveries with supportive care.

His laboratory studies included an elevated CK , urine myoglobin ,AST , ALT .

Serum lactate\pyruvate , total and free plasma carnitine , acylcarnitine profile , serum amino acid , urine organic acid and peroxisomal profile were NORMAL

Muscle biopsy : changes consistent with recent rhabdomyolysis and moderatly increased lipid content

Introduction Recurrent episodes of myoglobinuria are

frequent features of congenital metabolic myopathies .(2)

Differential diagnosis includes (3)

- Fatty acid oxidation defect - Glycogen storage disease - carnitine deficiency syndrome - Lipid stoarge disease - LIPIN-1 deficincy

Clinical presentation (4)

All patients suffer from recurrent episodes of myoglobinuria precipitated by febrile illnesses or occasionally by anesthesia or fasting and lasting 7-10 days.

Presenting symptoms weakness Inability to walk Mayalgia Dark urine And on examination tender muscle and marked

decrease in strength .

The central nervous system typically spared ; although cases of hypotonia reported.

Intellectual ability is reportedly average , but one patient suffered mild learning disability at 9 years of age.

Work up (4)

Ck levels are markedly elevated (peaks 180,000-450,000 units)

LDH and AST also raised ( peak levels 24,540 , 12,620 units/l respectively ).

Uric acid , ABG , lactate , total and free carnitine , blood acylcarnitine profile , plasma amino acids , CPT2 , and urinary organic acids >>> NORMAL

Since more than 50% of patients with unexplianed myoglobinuria , after exclusion of primary FAO disorders , have been found to be harbouring LIPIN1 mutation.

LIPIN 1 deficiency should be regarded as a major cause of severe recurrent myoglobinuria in early childhood.

Predisposing and precipitating factors: Exercise Fasting Hypokalemia High ambient temperature Infections Increased age Toxins and drugs

Treatment and prognosis Normal saline IV : 10-15 ml/kg continue if

adequate urine output Isotonic Sodium bicarbonate Monitor K Furosemide Treat specific underlying cause In the reported cases death has occurred

in a number of patients during episodes.

Reference 1-A novel LIPIN1 Mutation Causing Reccurent

Rhabdomyolysis in Childhood , Robert Bucelli,MD,PhD

2- The American Journal of Human Genetics 83,489-484, October 10, 2008

3- Approach to the metabolic myopathies ©2015 , up to date official

4. Inborn Metabolic Disease diagnosis and treatment , fifth edition . Jean-Marie Saudubray