Hyperexcitable Blink Reflex Preceding the Diagnosis of Neuroblastoma.

The diagnosis of neuroblastoma is sometimes preceded by development of a paraneoplastic syndrome, most commonly opsoclonus-myoclonus-ataxia (OMA). The authors describe a patient who developed a hyperexcitable blink reflex, without symptoms of OMA, prior to his oncologic diagnosis. The authors believe this may represent a distinct paraneoplastic process caused by increased dopaminergic stimulation of the blink reflex and suggest that children manifesting an unexplained hyperexcitable blink reflex should be screened for occult neuroblastoma.

Hyperexcitable blink reflex preceding the diagnosis of neuroblastoma.

The diagnosis of neuroblastoma is sometimes preceded by development of a paraneoplastic syndrome, most commonly opsoclonus-myoclonus-ataxia (OMA). The authors describe a patient who developed a hyperexcitable blink reflex, without symptoms of OMA, prior to his oncologic diagnosis. The authors believe this may represent a distinct paraneoplastic process caused by increased dopaminergic stimulation of the blink reflex and suggest that children manifesting an unexplained hyperexcitable blink reflex should be screened for occult neuroblastoma.

Langerhans cell deficiency in reticular dysgenesis.

Reticular dysgenesis is a rare inherited immunodeficiency characterized by the lack of blood monocytes and neutrophils and low lymphocyte counts, contrasting with normal red blood cell counts and normal or decreased platelet counts. Whether dendritic cells or macrophages, both of which derive primarily from blood monocytes, are affected in this condition remains unknown. We studied 7 patients with reticular dysgenesis.

Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.

X-linked severe combined immunodeficiency disease (SCID) results from mutations of IL2RG, the gene encoding the interleukin-2 receptor gamma chain, also known as the common gamma chain (gamma c). A distinct form of autosomal recessive SCID occurs at an increased frequency among the Navajo Native American population. The disease gene responsible for autosomal Navajo SCID remains to be determined.

Haploidentical bone marrow transplants for two patients with reticular dysgenesis.

We report two cases of reticular dysgenesis (RD) successfully treated by BMT utilizing T cell-depleted haploidentical marrow grafts. One child failed to engraft after conditioning with ATG, and the other failed two transplant attempts with cyclophosphamide + ATG, and busulfan + cyclophosphamide + ATG, respectively. Donor engraftment was achieved in both patients following treatment with 700 cGy TBI, with or without other agents.