ABSTRACT
Griscelli syndrome type 2 (GS2) is a rare, autosomal recessive condition caused by a mutation of the RAB27A gene that causes primary immunodeficiency and pigmentary dilution of skin and hair. It is a rare occurrence, with only 160 cases reported all over the world. It commonly progresses to hemophagocytic lymphohistiocytosis (HLH) due to immunodeficiency. We herein represent the case of a seven-month-old male child, the firstborn of a third-degree consanguineous marriage, who presented with recurrent viral infections and silvery grey hair. A definitive diagnosis of GS 2 was made in accordance with the pathognomonic appearance of hair on microscopic examination and whole genome sequencing, which revealed a homozygous missense mutation in exon 3 of the RAB27A gene. This article is being reported to highlight the rare incidence of this disease, its overlapping clinical features with malnutrition, the challenges faced in diagnosis, and the treatment modalities for it.
ABSTRACT
Pediatric growing skull fractures are complications that usually occur due to delays in management. In this report, we present the case of a three-year-old girl who was brought to the outpatient department with a complaint of swelling in her scalp. The patient had a history of swelling after suffering a head injury at the age of six months. There was no history of specific neurological impairments or seizures, despite the swelling being reported to have grown gradually in size. The current case is being reported since early evaluation of pediatric patients with a head injury, regardless of any neurological shortfalls, should be thoroughly worked up to prevent any progressively growing cranial defects. The subtlety of these pediatric head injury cases tends to cause misdiagnosis, which can delay management and can cause complications, as with this patient. Extended observation, intensive supportive care, and neurosurgery are considered when dealing with these seemingly innocuous cases.
