Adrenocortical carcinoma presenting with heterosexual pseudoprecocious puberty shortly after birth: case report and review.

Adrenocortical tumour is rare in children. We report on a female infant with adrenocortical carcinoma presenting with pseudoprecocious puberty at the age of two. She had a history of gradually increasing public hair growth after birth. Physical examination showed signs of virilisation such as pubic hair growth and hirsutism with evidence of facial hair growth. On biochemical evaluation, DHEA-S, 17-OH progesterone, and testosterone levels were elevated. An abdominopelvic spiral computed tomography (CT) scan with intravenous contrast identified a well-defined heterogeneously enhanced mass with areas of necrosis in the right adrenal gland and downward displacement of the underlying kidney. There was no evidence of distant metastasis on CT imaging. An exploratory laparotomy was performed in which a large, haemorrhagic and necrotic mass in the right adrenal gland with pressure effect on right liver lobe and signs of thrombosis in the inferior vena cava was detected. Pathologic examination confirmed the adrenocortical carcinoma. She received eight cycles of adjuvant chemotherapy with Carboplatin, Etoposide, and Doxorubicin regimens and underwent follow-up visits thereafter in which no sign of recurrence was observed. In conclusion, adrenocortical carcinomas are rare in children, but they should be considered in any child presenting with signs of pseudoprecocious puberty.

A novel RAB27A mutation in a patient with Griscelli syndrome type 2.

Griscelli syndrome type 2 is a rare autosomal recessive primary immunodeficiency disease caused by a mutation in the RAB27A gene and characterized by oculocutaneous hypopigmentation and variable cellular immunodeficiency. We report the case of a 6-month-old infant with silvery hair, eyelashes, and eyebrows who was referred to our center because of fever and hepatosplenomegaly. Bone marrow studies indicated hemophagocytosis, whilst microscopic examination of the hair showed irregular agglomerations of pigment in hair shafts. Molecular analysis revealed a novel homozygous mutation in exon 5, namely, a single-base substitution (g.42996 A>G) leading to an amino acid change (S115G) and thus confirming the diagnosis of Griscelli syndrome type 2. Griscelli syndrome could be more common than thought, especially in regions with high rates of consanguinity. As the prognosis of disease is usually poor, prompt diagnosis and appropriate treatment are vital to avoid complications.