bacterial infections ; Reduced delayed hypersensitivity ; Seizures ; Silver-gray hair ; Spasticity Associated Genes RAB27A (Withdrawn symbols: GS2, HsT18676, RAB27, RAM ) Mouse Orthologs Rab27a (Withdrawn symbols: 2210402C08Rik, 2410003M20Rik, 4933437C11Rik [mousephenotype.org]

bacterial infections Bacterial infections, recurrent Frequent bacterial infections Increased susceptibility to bacterial infections Recurrent major bacterial infections [ more ] 0002718 Reduced delayed hypersensitivity 0002972 Showing of 46 Last updated [rarediseases.info.nih.gov]

HEMOPHAGOCYTIC SYNDROME, PAID SYNDROME, PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME Classification eye, genetic, immunological, skin Phenotypes Abnormal cerebellum morphology ; Accumulation of melanosomes in melanocytes ; Autosomal recessive inheritance ; Death [mousephenotype.org]

[…] in childhood 0003819 Hemophagocytosis 0012156 Hypopigmentation of the skin Patchy lightened skin 0001010 Infantile onset Onset in first year of life Onset in infancy [ more ] 0003593 Melanin pigment aggregation in hair shafts 0002220 Recurrent bacterial [rarediseases.info.nih.gov]

A two-and-a-half-year-old male born of non-consanguineous parentage was referred to with complaints of progressive abdominal distension since birth, progressive pallor and recurrent episodes of fever since 1 year of age and on and off ear discharge for [e-ijd.org]

Furthermore the boy presented a progressive abdominal distension since birth, progressive pallor and recurrent episodes of fever since 1 year of age. There was history of blood transfusions for last 2 months. [panafrican-med-journal.com]

The sibling had history of repeated episodes of fever and ear discharge and light colored hair. There was no history of any relatives affected by similar clinical presentation. On examination his vital parameters were normal. [e-ijd.org]

He had pallor, silvery gray scalp hair, white eyelashes, sparse eyebrows, and pedal edema [Figure 1]. Abdomen was distended, with firm hepatomegaly. The spleen was palpable 7 cm below left costal margin and was firm in consistency. [e-ijd.org]

He had pallor, silvery gray scalp hair, white eyelashes, sparse eyebrows, and pedal edema [Figure 1]. Abdomen was distended, with firm hepatomegaly. The spleen was palpable 7 cm below left costal margin and was firm in consistency. [e-ijd.org]

Neurologic involvement with raised intracranial pressure, cerebellar signs, encephalopathy, hemiparesis, peripheral facial palsy, spasticity, hypotonia, seizures, psychomotor retardation and progressive neurologic deterioration is known [ 3 ]. [casereports.in]

OUTCOME AND FOLLOW-UP However, on the sixth day of hospitalisation her general condition worsened and her neurological examination revealed ataxia, dyssynergia and dysmetria. [docksci.com]

Ashrafi et al10 reported bilateral basal ganglia involvement in a GS2 case who was admitted to the hospital with seizures and stupor. Competing interests None. Patient consent Obtained. [docksci.com]

The peripheral smear showed moderate anisopoikilocytosis, predominantly normocytic hypochromic RBC with fair number of microcytes, ovalocytes and few ellipitocytes. Platelets and leucocytes were reduced. [e-ijd.org]

Figure 1: Note the silvery discoloration of the scalp hair and the eyebrows Click here to view Investigation revealed bicytopenia, with hemoglobin of 5.8 gm/dl and platelets 1, 00,000/μl. [pigmentinternational.com]

HLH has been characterized by an unremitting polyclonal CD8 T-cell expansion, and lymphocytic infiltration of visceral tissues that leads to macrophage activation (hemophagocytosis) and the deleterious release of several cytokines, including interferon [scielo.br]