Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate‐deficient glycoprotein syndrome

Abstract

Background CLN3 disease is a major cause of childhood neurodegeneration. Onset of visual failure around 6 years of age is thought to precede cognitive deterioration by a few years, but casuistic reports question this paradigm. The aim of our study is to delineate timing of cognitive decline in CLN3 disease. Methods Early neurocognitive functioning in CLN3 disease was analyzed using age at onset of visual and cognitive decline and IQ scores from literature‐derived patient descriptions, supplemented with IQ scores and school history from a retrospective referral center cohort. We analyzed protracted and classical CLN3 separately and added a control group of patients diagnosed with juvenile onset macular degeneration (early onset Stargardt disease) to control for possible effects of rapid vision loss on neurocognitive functioning. Results Onset of cognitive decline at a mean age of 6.8 years (range 2–13 years, n = 19) paralleled onset of visual deterioration at a mean age of 6.4 years (range 4–9 years, n = 81) as supported by an early decline in IQ scores in classical CLN3 disease. Onset and course of vision loss was similar in patients with protracted CLN3. The decreased IQ levels at diagnosis (mean 68.4, range 57–79, n = 9) in the referral cohort were consistently associated with an aberrant early school history contrasting normal school history and cognition in Stargardt disease patients. Conclusions Cognitive dysfunction is universally present around diagnosis in classical CLN3 disease.

Intestinal, Pancreatic and Hepatic Involvement in CDGS-I (Carbohydrate-Deficient Glycoprotein Syndrome Type I).

“…Except for the risk of pericardial e †usion, the heart otherwise appears relatively spared in CDGS-I. Hypertrophic cardiomyopathy, as reported by others (Clayton et al 1992 ;Garcia Silva et al 1996 ;Harding et al 1988) was not found in our series of patients, except in one patient who displayed a slight asymmetric thickening of the septum.…”

“…Another case with hypertrophic obstructive cardiomyopathy was also reported (Clayton et al 1992). Prenatal diagnosis of hypertrophic cardiomyopathy and pericardial e †usion was recently described (Garcia Silva et al 1996). Otherwise the cardiovascular system has been noted to be normal (Harding et al 1988).…”

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

“…Small testicular volumes with or without hypogonadism have been described . Other abnormalties include increased Follicle‐stimulating hormone (FSH), and cryptorchidism …”

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

“…The age of diagnosis of cardiomyopathy in reported cases ranged from the first week of life to 7 years of age, and in a few cases it was detected prenatally [2,25,31]. In addition, this is the first report of CDG from Saudi Arabia and it is likely that this condition is underdiagnosed in this region often due to poor access to appropriate metabolic and genetic testing.…”