Outcomes in multifocal neuroblastoma as part of the neurocristopathy syndrome.

[hirschsprung disease]

The neurocristopathy syndrome occurs because of a germline mutation of the paired-like homeobox 2 b (PHOX 2 B ) gene at 4 p 12 , a neurogenesis regulator gene . The result is abnormal neural crest cell development resulting in congenital central hypoventilation syndrome , Hirschsprung disease , and neuroblastoma (NB ), which is often multifocal and disseminated in its presentation . Previously , such widespread disease was regarded as highly aggressive and treated either with palliative intent or , conversely , with very intense , high -dose chemotherapy . We now present a patient who had neurocristopathy syndrome who had multifocal NB associated with an underlying germline PHOX 2 B mutation . He was treated conservatively with surgery and low -dose chemotherapy . After treatment he had extensive residual disease that has continued to mature despite no further treatment . A literature review identified 26 similar patients presenting with multifocal NB as part of the neurocristopathy syndrome . In all cases the NB behaved in an indolent manner with no deaths from tumor reported when patients received appropriate treatment . These provocative findings suggest for the first time that children who have neurocristopathy-associated NB should be treated conservatively , despite the aggressive appearance of their disease .

Diseases
Validation

Diseases presenting "first time" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

adrenomyeloneuropathy

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

carcinoma of the gallbladder

cholangiocarcinoma

classical phenylketonuria

congenital adrenal hyperplasia

congenital toxoplasmosis

cowden syndrome

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dentin dysplasia

dentinogenesis imperfecta

dracunculiasis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

fabry disease

familial mediterranean fever

gm1 gangliosidosis

harlequin ichthyosis

heparin-induced thrombocytopenia

hirschsprung disease

hodgkin lymphoma, classical

holt-oram syndrome

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

malignant atrophic papulosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

omenn syndrome

oral submucous fibrosis

papillon-lefèvre syndrome

pendred syndrome

phenylketonuria

primary effusion lymphoma

primary hyperoxaluria type 1

severe combined immunodeficiency

sneddon syndrome

triple a syndrome

trochlear dysplasia

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

You can validate or delete this automatically detected symptom