Late infantile neuronal ceroid lipofuscinosis: A case report with review of literature

Abstract

Neuronal ceroid lipofuscinosis (NCL) are a group of genetically mediated neurodegenerative disorders affecting children and young adults. They are characterized by global mental and motor deterioration, vision loss, and epilepsy ultimately resulting in death. Of the various types, late infantile variety is the 2nd most common form of NCL. Here the authors report a case of a 9-year-old boy who presented with progressive mental and social deterioration since the age of 2½ years. As the disease progressed, he developed progressive vision loss, gait ataxia, action myoclonus, and epilepsy. Electroencephalogram revealed generalized sharp and slow wave discharges with background slowing. Magnetic resonance imaging of the brain revealed diffuse cerebral and cerebellar atrophy markedly affecting the cerebellum along with periventricular T2 hyperintensities. Skin biopsy from axilla revealed characteristic intracytoplasmic eosinophilic inclusions and periodic acid Schiff positive bodies within the eccrine ducts suggestive of NCL.

A multimodal approach to identify clinically relevant parameters to monitor disease progression in a preclinical model of neuropediatric disease

“…These results suggest that alterations in glutamate-glutamine cycling and excitatory signaling may be a prominent feature of this disease model, mirroring what has been found in other studies( 33 ). Furthermore, NAA decreases we observed mirror those seen in human patients with a number of neurodegenerative disorders including Batten disease ( 34-36 ), suggesting that this may be a useful marker for monitoring neurodegeneration in Cln6 nclf mice.…”

A case of late infantile neuronal ceroid lipofuscinosis type 5

“…Late infantile NCL can present from late infancy to early childhood 1 . Delayed speech and clumsiness in motor activity are often early signs which were the first manifestations of our patient as well 2 . Other early features include seizures and mental retardation which were severe enough to cause school dropout in our patient.…”

“…Optic disc pallor and pigmentary retinopathy are characteristic ophthalmic findings in NCL 1 . Brain atrophy that is marked in cerebellum is also a typical finding 2 . Eosinophilic inclusion bodies can be observed in skin biopsy 2 .…”

“…She dropped out of school from grade 1 due to poor school performance. 2 . This disorder is rarely reported from Asian countries and is common in Scandinavian countries 3 .…”

Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus

“…The accumulated substrate(s) of the defective enzyme(s) lead to dysfunction in the nervous system, eye, and other systems and ultimately lead to cell death and organspecific clinical manifestations. Most LSDs are inherited in an autosomal-recessive manner, 21 but some, like patients with neuronal ceroid lipofuscinosis 4B and nystagmus 18,22 and the case presented here, present autosomal-dominant inheritance. 23,24 Mutations in MANBA have been previously linked to β-mannosidosis (OMIM 248510), an autosomal-recessive LSD resulting in demyelination of the CNS.…”