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Severe Microcephaly and Rapid Deterioration Due to Cortical Atrophy in Early Infancy: Consider TRAPPC4 Trappopathy

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Annals of Indian Academy of Neurology ¦ Volume 25 ¦ Issue 4 ¦ July-August 2022 735 Dear Editor, Trappopathies are a group of disorders related to the TRAnsport Protein Particle… Click to show full abstract

Annals of Indian Academy of Neurology ¦ Volume 25 ¦ Issue 4 ¦ July-August 2022 735 Dear Editor, Trappopathies are a group of disorders related to the TRAnsport Protein Particle (TRAPP) associated proteins, which have critical roles in cellular trafficking events, autophagy and TRAPP proteins are essential for dendritic spine morphogenesis.[1,2] TRAPPC4 is one of the core proteins of the TRAPP complex and the number of diseases associated with mutations of the genes encoding the TRAPP complex is increasing.[1] Different mutations affecting the TRAPP complex may share some overlapping features, like microcephaly, seizures, intellectual disability, neurodevelopmental regression and abnormal cranial magnetic resonance imaging (MRI).[1] Reported features of trappopathies include skeletal disorder, spondyloepiphyseal dysplasia tarda and a febrile illness‐induced encephalopathy and neurodevelopmental delay in TRAPPC2 and TRAPPC2L, intellectual disability, microcephaly, and thin corpus callosum (TCC) in both TRAPPC6 and TRAPPC9, autosomal recessive mental retardation 13 due to TRAPPC9, elevated creatinine kinase (CK) and lactate, liver disease and muscular disorders (either myopathy or limb‐girdle muscular dystrophy and alpha‐dystroglycanopathy) in TRAPPC11 related diseases, and microcephaly, severe developmental delay, seizures, and brain abnormalities such as brain atrophy, agenesis of corpus callosum or pons hypoplasia in TRAPPC12.[1]

Keywords: microcephaly; trapp complex; neurology; microcephaly rapid; atrophy; severe microcephaly

Journal Title: Annals of Indian Academy of Neurology
Year Published: 2022

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