Clinical Features of Infantile GM1 Gangliosidosis: Report of an Iranian Patient

Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease due to a lack of β-galactosidase activity, exactly because of mutations in the GLB1 gene. GM1 gangliosidosis is a rare disease that could occur either during infancy (infantile type 1), as a juvenile (type 2), or in adulthood (type 3) in both nervous and skeletal systems. Type 1 is characterized by premature psychomotor deterioration, visceromegaly, macular cherry-red spot, skeletal deformities, and death in the first 2 years of life. Case Presentation: We reported an Iranian infant who, on initial check-up, had coarse face, visceromegaly, dystonia, and hepatosplenomegaly that increased at 15 months of age. At the initial check-up, a genetic test was performed and GM1 gangliosidosis type 1 was diagnosed. Conclusion: infant form is characterized by early-onset before the age of 6 months and rapidly progressive psychomotor deterioration, facial abnormalities, and visceromegaly.

Dyke Davidoff syndrome: a rare cause of cerebral hemiatrophy in 11 months old

Dyke-Davidoff-Masson syndrome (DDMS) is an uncommon condition, characterized radiologically by cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses, of unknown frequency resulting from brain injury due to large no of causes; especially in early life. Mostly presents early in life with seizures, learning difficulty, contralateral hemiparesis and facial symmetry. Here we present a case of 11 months old female child with developmental delay, visual abnormality, microcephaly and spastic hemiplegia. CT-brain done which was suggestive of infantile type of cerebral hemiatrophy or DDMS.

Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease

Introduction. Pompe disease is an autosomal recessive lysosomal storage disorder with marked morbidity and mortality, if untreated. With the advent of enzyme replacement therapy, it is essential to identify the infantile-type as early as possible to mitigate the effects of the enzyme deficiency. Identification is possible prenatally with testing of both parents. More recently, many states have instituted newborn screening for this condition. Case. We report a patient with infantile-onset Pompe disease with a normal paternal carrier genetic test, born prior to newborn screening for Pompe disease in the state of Michigan. The infant’s father was retested once the infant was diagnosed with Pompe disease postnatally and noted to have a mutation conducive to Pompe disease. Conclusion. Providers should have a strong clinical suspicion for disorders even if prenatal parental carrier screening is normal. A normal parental prenatal test does not exclude the possibility that the fetus may be diagnosed with a disorder postnatally, and pediatricians may be faced with limitations in accuracy of parents’ recollection of parental testing results.

Infantile GM1-Gangliosidosis Revealed by Slate-Grey Mongolian Spots

Introduction: GM1-gangliosidosis is an inherited metabolic disease caused by mutations in the GLB1 gene resulting in deficiency of β-galactosidase. Three forms have been identified: Infantile, juvenile, and adult. The infantile type progresses rapidly and aggressively and a delayed diagnosis hampers the prevention of many neurological deficits. This delay in diagnosis may be due to the variability of clinical expression of the disorder. Hypothesis: Extensive Mongolian or slate-grey spots deserve special attention as possible indications of associated inborn errors of metabolism, especially GM1-gangliosidosis and mucopolysaccharidosis. Only symptomatic treatments are available for GM1-gangliosidosis; research is underway. Observation: In this article, we report a case of infantile GM1-gangliosidosis revealed by slate-grey Mongolian spots, a rare condition in Morocco, and a review of the literature. Conclusion: The finding of persistent and extensive slate-grey mongolian spots in infant could lead to early detection of GM1-gangliosidosis before irreversible organ damage occurs.

Late Infantile Neuronal Ceroid Lipofuscinosis in a Filipino Child with Epilepsy and Progressive Neurodegeneration

The neuronal ceroid lipofuscinoses correspond to a group of disorders characterized by neurodegeneration and intracellular buildup of auto-flourescent lipopigment (ceroid lipofuscin). They are classified by age of onset into infantile, late infantile, juvenile and adult forms. Among these, the late infantile type is caused by mutations in tripeptidyl peptidase 1 (TPP1) gene and is characterized by age of onset between 2-4 years, seizures, early progressive cognitive impairment and visual loss. Our patient is a 4-year-old girl who presented at 2 years and 10 months old with seizures followed by ataxia, regression of skills and eventual visual decline. TPP1 enzyme activity was below normal for age. This report aims to increase the awareness of physicians on the cluster of symptoms characteristic of this disorder which will help facilitate early diagnosis and prompt institution of appropriate management.