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Metachronous occurrence of nonradiation-induced brain cavernous hemangioma and medulloblastoma in a child with neurofibromatosis type I phenotype.

Furlanetti LL, Santos MV, Valera ET, Brassesco MS, de Oliveira RS - J Pediatr Neurosci (2012)

Bottom Line: We report the case of a 13-month-old boy with café-au-lait skin lesions associated with NF1-like phenotype who underwent surgical resection of a single CH in the temporal lobe due to recurrent seizures.After being treated with radiotherapy and chemotherapy, he achieved total remission.Six years later a massive recurrence of the tumor was observed and the child eventually died.

View Article: PubMed Central - PubMed

Affiliation: Department of Surgery and Anatomy Division of Pediatric Neurosurgery, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, São Paulo.

ABSTRACT
Cavernous hemangioma (CH) is a sporadic vascular malformation occurring either as an autosomal dominant condition or as a well-known complication of radiation exposure. Medulloblastoma is a primitive neuroectodermal tumor common in children and currently treated with surgical resection, chemotherapy, and radiotherapy. Neurofibromatosis is the most common single-gene disorder of the central nervous system. Posterior fossa malignant tumors in the context of neurofibromatosis type I (NF1) are very infrequent. This is the first documented case of an unusual metachronous occurrence of non-radiation-induced CH and medulloblastoma in a child with NF1 phenotype. We report the case of a 13-month-old boy with café-au-lait skin lesions associated with NF1-like phenotype who underwent surgical resection of a single CH in the temporal lobe due to recurrent seizures. Four years later he presented with signs of raised intracranial pressure associated with a posterior fossa tumor and hydrocephalus, thus requiring gross total resection of the lesion. Histological analysis revealed a medulloblastoma. After being treated with radiotherapy and chemotherapy, he achieved total remission. Six years later a massive recurrence of the tumor was observed and the child eventually died. The interest in this case lies in the rarity of NF1-like phenotype associated with a non-radiation-induced brain CH and medulloblastoma in a child.

No MeSH data available.


Related in: MedlinePlus

(a) Lingual melanotic macule. (b, c) Café-au-lait lesions associated with multiple ephelides. (d) Pedigree of the family. The generations are indicated with roman numerals (I–III). Numbers on top of the symbols indicate the individuals in each generation. Squares, male; circles, female; symbols with a diagonal, deceased individuals. Age at diagnosis is indicated on the right bottom of the symbols. Solid symbols, affected individuals; shaded symbol with a diagonal, congenital heart disease
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Figure 1: (a) Lingual melanotic macule. (b, c) Café-au-lait lesions associated with multiple ephelides. (d) Pedigree of the family. The generations are indicated with roman numerals (I–III). Numbers on top of the symbols indicate the individuals in each generation. Squares, male; circles, female; symbols with a diagonal, deceased individuals. Age at diagnosis is indicated on the right bottom of the symbols. Solid symbols, affected individuals; shaded symbol with a diagonal, congenital heart disease

Mentions: A 13-month-old boy, with consanguineous parents, was referred to the Pediatric Emergency Department of our hospital with partial-complex seizure. Clinical evaluation revealed normal neurological development and no focal deficits. No iris nevi or Lisch nodules were evident on ophthalmological examination. Prominent café-au-lait skin lesions were observed on the patient's neck and midchest [Figure 1a-c]. His father and brother had similar dermatologic signs, the latter having died at the age of 6 years due to T-cell acute lymphocytic leukemia. He also had an older brother who died owing to congenital heart disease [Figure 1d]. MRI of the brain showed an isolated lesion in the left mesial-temporal lobe [Figure 2a]. Microsurgical total removal of the lesion was performed. Histological diagnosis confirmed a typical cavernous hemangioma. The patient had an uneventful postoperative course and was discharged after four days. Outpatient consultations were performed routinely.


Metachronous occurrence of nonradiation-induced brain cavernous hemangioma and medulloblastoma in a child with neurofibromatosis type I phenotype.

Furlanetti LL, Santos MV, Valera ET, Brassesco MS, de Oliveira RS - J Pediatr Neurosci (2012)

(a) Lingual melanotic macule. (b, c) Café-au-lait lesions associated with multiple ephelides. (d) Pedigree of the family. The generations are indicated with roman numerals (I–III). Numbers on top of the symbols indicate the individuals in each generation. Squares, male; circles, female; symbols with a diagonal, deceased individuals. Age at diagnosis is indicated on the right bottom of the symbols. Solid symbols, affected individuals; shaded symbol with a diagonal, congenital heart disease
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3401654&req=5

Figure 1: (a) Lingual melanotic macule. (b, c) Café-au-lait lesions associated with multiple ephelides. (d) Pedigree of the family. The generations are indicated with roman numerals (I–III). Numbers on top of the symbols indicate the individuals in each generation. Squares, male; circles, female; symbols with a diagonal, deceased individuals. Age at diagnosis is indicated on the right bottom of the symbols. Solid symbols, affected individuals; shaded symbol with a diagonal, congenital heart disease
Mentions: A 13-month-old boy, with consanguineous parents, was referred to the Pediatric Emergency Department of our hospital with partial-complex seizure. Clinical evaluation revealed normal neurological development and no focal deficits. No iris nevi or Lisch nodules were evident on ophthalmological examination. Prominent café-au-lait skin lesions were observed on the patient's neck and midchest [Figure 1a-c]. His father and brother had similar dermatologic signs, the latter having died at the age of 6 years due to T-cell acute lymphocytic leukemia. He also had an older brother who died owing to congenital heart disease [Figure 1d]. MRI of the brain showed an isolated lesion in the left mesial-temporal lobe [Figure 2a]. Microsurgical total removal of the lesion was performed. Histological diagnosis confirmed a typical cavernous hemangioma. The patient had an uneventful postoperative course and was discharged after four days. Outpatient consultations were performed routinely.

Bottom Line: We report the case of a 13-month-old boy with café-au-lait skin lesions associated with NF1-like phenotype who underwent surgical resection of a single CH in the temporal lobe due to recurrent seizures.After being treated with radiotherapy and chemotherapy, he achieved total remission.Six years later a massive recurrence of the tumor was observed and the child eventually died.

View Article: PubMed Central - PubMed

Affiliation: Department of Surgery and Anatomy Division of Pediatric Neurosurgery, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, São Paulo.

ABSTRACT
Cavernous hemangioma (CH) is a sporadic vascular malformation occurring either as an autosomal dominant condition or as a well-known complication of radiation exposure. Medulloblastoma is a primitive neuroectodermal tumor common in children and currently treated with surgical resection, chemotherapy, and radiotherapy. Neurofibromatosis is the most common single-gene disorder of the central nervous system. Posterior fossa malignant tumors in the context of neurofibromatosis type I (NF1) are very infrequent. This is the first documented case of an unusual metachronous occurrence of non-radiation-induced CH and medulloblastoma in a child with NF1 phenotype. We report the case of a 13-month-old boy with café-au-lait skin lesions associated with NF1-like phenotype who underwent surgical resection of a single CH in the temporal lobe due to recurrent seizures. Four years later he presented with signs of raised intracranial pressure associated with a posterior fossa tumor and hydrocephalus, thus requiring gross total resection of the lesion. Histological analysis revealed a medulloblastoma. After being treated with radiotherapy and chemotherapy, he achieved total remission. Six years later a massive recurrence of the tumor was observed and the child eventually died. The interest in this case lies in the rarity of NF1-like phenotype associated with a non-radiation-induced brain CH and medulloblastoma in a child.

No MeSH data available.


Related in: MedlinePlus