Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A two-month-old girl presented with a right Horner's syndrome as the only manifestation of a primary thoracic neuroblastoma. The early diagnosis of this condition allows a cure rate approaching 100 percent. Ophthalmologists should exclude thoracic neuroblastoma in children with Horner's syndrome.
J Pediatr Ophthalmol Strabismus
PMID:Congenital Horner's syndrome and thoracic neuroblastoma. 73 23

Ten cases of Horner's syndrome with pharmacologic testing and computed tomography scans are described in patients up to age 8 years. The patients also were assessed for iris color and facial sweating. Classical preganglionic Horner's syndrome associated with brachial plexus birth injury was not identified in any case. Two patients who presented with ptosis had neuroblastoma. Two other children had undergone corrective cardiothoracic surgery. Two patients had major congenital abnormalities. In four patients, no cause of Horner's syndrome was determined.
J Pediatr Ophthalmol Strabismus
PMID:Horner's syndrome in children. 334 39

An apparently normal 10-day-old girl had, since birth, a gray-white vascularized tumor in the inferior quadrants of the right anterior chamber. General physical examination revealed abdominal distension, hepatomegaly, splenomegaly, and a deeply located abdominal mass. Multiple subcutaneous nodules scattered all around the body's surface could be palpated. Surgical exploration confirmed the presence of a left adrenal neuroblastoma. Six months after a complete resection of the abdominal tumor and general radiotherapy and chemotherapy, the right anterior chamber mass regressed almost completely, leaving only a calcified residue. The child is living and well six years after the diagnosis of neuroblastoma. This is the first case known to us in the literature of a congenital anterior chamber metastasis, as well as the first case reported of an anterior segment metastasis from a neuroblastoma.
J Pediatr Ophthalmol Strabismus
PMID:Anterior chamber metastasis from neuroblastoma. 715 21

Ondine's Curse or congenital central hypoventilation syndrome (CCHS) is a neurocristopathy (failure of migration or differentiation of neural crest-derived precursor cells) and is characterized by hypoventilation or apnea, which is most pronounced during sleep, with no other abnormalities of the neuro-respiratory system. Because of respiratory distress soon after birth, patients must be intubated and ventilated for a long time. This disorder may be associated with other symptoms of neurocristopathy (Hirschsprung disease, neuroblastoma, neuroganglioma) and other abnormalities of the autonomic nervous system (vasomotor dysfunctions or ophthalmic abnormalities: abnormal pupils, insufficient convergence, strabismus, or ptosis). We report the original case of a CCHS patient who presented with alternative ptosis of both the right and left eyes and esotropia. The ocular findings should lead to earlier diagnosis and speedier adequate treatment.
 ...
PMID:[Ondine's Curse and rare oculomotor abnormalities: a case report]. 1688 11

Neuroblastoma of the iris is an extremely rare clinical entity. An otherwise healthy 2-month-old male infant presented to the oncology clinic with a nodular whitish iris lesion in his right eye. The excisional tumor biopsy was consistent with a pathological diagnosis of neuroblastoma with differentiation and negative MYCN gene mutation. Further systemic evaluation revealed a right adrenal mass with no metastatic lesion. The biopsy of the adrenal lesion was also consistent with neuroblastoma. After four courses of chemotherapy, the adrenal mass was completely resected. The patient underwent two additional courses of postoperative chemotherapy and continued retinoic acid treatment. The patient is under regular follow-up with no evidence of recurrence 36 months after the initial diagnosis. This is the first case report to present a histopathological verification of neuroblastoma of the iris. The authors suggest that neonates and infants who are diagnosed as having neuroblastoma undergo an ophthalmologic examination after the initial diagnosis to investigate the true incidence of small iris lesions in neuroblastoma that may have been unrecognized. Neuroblastoma should be included in the differential diagnosis of amelanotic iris lesions in infants and young children. [J Pediatr Ophthalmol Strabismus. 2019;56:e12-e16.].
J Pediatr Ophthalmol Strabismus 2019 Feb 08
PMID:Neuroblastoma of the Iris in Children. 3074 77