Aldolase A deficiency: Report of new cases and literature review.

Aldolase A (ALDOA), is the predominant isoform of aldolase in skeletal muscle and erythrocytes that catalyzes the reversibleconversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate. Autosomal recessive mutations in ALDOA, are extremely rare and cause hemolytic anemia and/or recurrent episodes of rhabdomyolysis, usually precipitated by fever. In this report we describe, clinical, laboratory and genetic data of two novel unrelated patients harboring mutations in the ALDOA gene who presented with episodic rhabdomyolysis, we review all previously published cases and discuss the most valuable features for diagnosis of this rare disorder.

Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients.

PurposeEarly onset posterior subscapular cataract (<50 years of age) is a characteristic feature of myotonic dystrophy type 2 (DM2). Nevertheless, despite being operated at a young age, many patients remain undiagnosed for years. The purpose of this study was to assess the prevalence of early onset posterior subscapular cataract as a presenting symptom of the disease in a cohort of patients with DM2.Patients and methodsWe retrospectively reviewed medical records of DM2 patients followed in our institution for the presence of early onset posterior subscapular cataract, of any secondary causes of cataract, of the age of onset of muscle weakness and of final disease diagnosis.ResultsTwenty-eight patients were studied. Nine patients (32.1%) had presented early onset posterior subscapular cataract at a median age of 43 years (IQR=36-46) and seven (25%) reported it was the presenting sign. No patient was referred for neuromuscular evaluation due to the occurrence of early onset cataract. Median delay between cataract onset and referral for neuromuscular evaluation was 10 years (IQR=6.0-19.5) and final DM2 diagnosis was achieved after a median of 16 years (IQR=6.5-19.5).ConclusionThis study shows that early onset posterior subscapular cataract was the first symptom of the disease in 25% of our DM2 patients. Nevertheless, none was suspected of having cataract in the context of DM2, and referral for neuromuscular evaluation was made after a long delay and usually following the appearance of other symptoms. Ophthalmologists can be the first physicians encountering these patients and should have a low threshold for referring them for neuromuscular evaluation.