ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
Emergency: requires immediate attention
NOCARH syndrome
Other Resources UpToDate PubMed
Emergency: requires immediate attention

NOCARH syndrome

Contributors: Negar Esfandiari BHSc, Keith Morley MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

NOCARH syndrome (neonatal onset of cytopenia, autoinflammation, rash, and episodes of hemophagocytic lymphohistiocytosis [HLH]) is an extremely rare syndrome characterized by neonatal onset pancytopenia / dyshematopoiesis, autoinflammation, rash, and HLH. It is caused by a mutation in the cell division cycle 42 (CDC42) protein, usually in p. R186C at the C-terminal. CDC42 is responsible for ensuring proper functioning of the cell cycle, as well as cellular proliferation, adhesion, and migration. Thus, mutation in this protein causes dysregulated cell functioning, including hematological cell lines in the bone marrow. Most patients diagnosed with NOCARH syndrome have no family history. A single family with a recessively inherited mutation has been reported.

This syndrome presents with fever, rash, failure to thrive, hepatosplenomegaly, diarrhea, pancytopenia, and HLH starting in infancy. NOCARH syndrome is a fatal disease if not treated promptly; many pediatric patients have not survived this disease even with treatment.

Codes

ICD10CM:
D61.818 – Other pancytopenia
D76.1 – Hemophagocytic lymphohistiocytosis
D76.3 – Other histiocytosis syndromes
M04.8  – Other autoinflammatory syndromes

SNOMEDCT:
234437005 – Hemophagocytic lymphohistiocytosis

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed:01/12/2022
Last Updated:01/24/2022
Copyright © 2022 VisualDx®. All rights reserved.
Emergency: requires immediate attention
NOCARH syndrome
Print  
NOCARH syndrome
Copyright © 2022 VisualDx®. All rights reserved.