ABSTRACT
Hemihyperplasia-multiple lipomatosis syndrome (HMLS) is characterized by subcutaneous lipomatosis and an asymmetric overgrowth (hemihyperplasia). We report an extremely rare case of HMLS associated with hydrocephalus, emphasizing the clinical features and differential diagnosis.
Subject(s)
Hydrocephalus/diagnosis , Hyperplasia/diagnosis , Lipomatosis/diagnosis , Brain/pathology , Child , Humans , Lumbar Vertebrae/abnormalities , Lumbar Vertebrae/pathology , Magnetic Resonance Imaging , Male , Scoliosis/diagnosis , SyndromeSubject(s)
Neurocutaneous Syndromes/diagnosis , Sturge-Weber Syndrome/diagnosis , Atrophy , Child , Developmental Disabilities/genetics , Female , Humans , Intellectual Disability/genetics , Neurocutaneous Syndromes/pathology , Neurocutaneous Syndromes/physiopathology , Status Epilepticus/genetics , Sturge-Weber Syndrome/pathology , Sturge-Weber Syndrome/physiopathologyABSTRACT
Pontocerebellar hypoplasia consists of a rare heterogeneous group of congenital neurodevelopmental disorders characterized by hypoplasia and atrophy of the cerebellar cortex, dentate and pontine nuclei, and inferior olives. Lineer nevoid hyperpigmentation is a rare skin condition characterized by whorls and streaks of hyperpigmented macules in a reticulate pattern along Blaschko's lines. Herein we present a three year-old male patient with pontocerebellar hypoplasia associated with nevoid hyperpigmentation on the upper part of the body. Besides he has some dysmorphic features including microcephaly, triangular chin, long philtrum, long hand fingers, flexion contracture in all of the distal phalanges of both hands, and strabismus.
