- Intraductal papillary bile duct adenocarcinoma and gastrointestinal stromal tumor in a case of neurofibromatosis type 1. [Journal Article]
- WJWorld J Gastroenterol 2018 Jan 28; 24(4):537-542
- We report our experience with a synchronous case of gastrointestinal stromal tumor (GIST) and intraductal papillary neoplasm of the bile duct (IPNB) in an elderly woman with neurofibromatosis type 1 ...
We report our experience with a synchronous case of gastrointestinal stromal tumor (GIST) and intraductal papillary neoplasm of the bile duct (IPNB) in an elderly woman with neurofibromatosis type 1 (NF-1). A 72-year-old woman presented with a 2-mo history of right upper abdominal pain unrelated to diet and indigestion. Fourteen years earlier, she had been diagnosed with NF-1, which manifested as café au lait spots and multiple nodules on the skin. Computed tomography (CT) revealed a multilocular low-density mass with septation, and mural nodules in the right hepatic lobe, as well as a 1.7-cm-sized well-demarcated enhancing mass in the third portion of the duodenum. The patient subsequently underwent right hepatectomy and duodenal wedge resection. We present here the first report of a case involving a synchronous IPNB and GIST in a patient with NF-1. Our findings demonstrate the possibility of various tumors in NF-1 patients and the importance of diagnosis at an early stage.
- Endovascular management of renal artery aneurysms induced by neurofibromatosis type 1: A case report. [Case Reports]
- MMedicine (Baltimore) 2017; 96(47):e8858
- CONCLUSIONS: Successful endovascular treatment for NF-1 related renal artery aneurysms in adults is reported for the 1st time with preserved renal function and improved hypertension. Endovascular procedure is considered to be feasible and effective for renal artery aneurysms induced by NF-1.
- Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient. [Case Reports]
- ABAn Bras Dermatol 2017 Nov-Dec; 92(6):870-873
- Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ep...
Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, glands, and central nervous system. Moyamoya disease is a rare progressive vaso-occlusive disorder that occurs with important ischemic cerebrovascular events. Despite the rarity of this association in childhood, children diagnosed with neurofibromatosis type 1 and focal neurologic symptoms should be investigated for moyamoya syndrome. The present study reports the case of a pediatric patient with a rapidly progressive cerebrovascular accident and a late diagnosis of Neurofibromatosis type 1 associated with moyamoya disease.
- GeneReviews® [BOOK]
- BOOKUniversity of Washington, Seattle: Seattle (WA)
- Neurofibromatosis 1 (NF1) is characterized by multiple café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, iris Lisch nodules, and choroidal freckling. About half o...
Neurofibromatosis 1 (NF1) is characterized by multiple café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, iris Lisch nodules, and choroidal freckling. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.
- Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6. [Journal Article]
- EJEur J Hum Genet 2018 Jan 04
- Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessively inherited childhood cancer susceptibility syndrome caused by biallelic germline mutations in one of the mismatch repair (...
Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessively inherited childhood cancer susceptibility syndrome caused by biallelic germline mutations in one of the mismatch repair (MMR) genes. The spectrum of CMMRD-associated tumours is very broad and many CMMRD patients additionally display signposting non-neoplastic features, most frequently café-au-lait macules and other pigmentation alterations. We report on a 13-month-old girl suspected of having CMMRD due to a desmoplastic medulloblastoma and a striking skin pigmentation that included multiple café-au-lait macules, hypopigmented areas and Mongolian spots. Whole-exome sequencing revealed homozygosity for MSH2 variant p.(Leu92Val) and MSH6 variant p.(Val809del), both variants of uncertain significance (VUS). Immunohistochemical analysis of the tumour tissue showed expression of all four MMR proteins and gMSI testing was negative. However, functional assays demonstrated that the cells of the patient displayed methylation tolerance and ex vivo microsatellite instability, which unequivocally confirmed the diagnosis of CMMRD. Taken together, the results render the MSH2 variant unlikely to be responsible for the phenotype, while they are compatible with MSH6-associated CMMRD. This case illustrates the diagnostic strategy of confirming CMMRD syndrome in patients with VUS.
- Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature. [Case Reports]
- CGCytogenet Genome Res 2017; 153(2):81-85
- Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45...
Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45,XX,add(12)(p13)dn,-21 karyotype. The final cytogenomic result was 45,XX,der(12)t(12;21)(p13;q22.11) dn,-21.arr[hg19] 21q11.2q22.11(14824453_33868129)×1 revealing a deletion from 21pter to 21q22.11. Clinical manifestation of the patient included hypertonia, a long philtrum, epicanthic folds, low-set ears, and café-au-lait macules - a phenotype considered as mild despite the relatively large size of the deletion compared to patients from the literature.
- Two girl patients with medulloblastoma. Case reports. [Journal Article]
- RJRom J Morphol Embryol 2017; 58(3):1103-1108
- In childhood, the most common type of brain tumors is medulloblastoma, a highly malignant primary brain tumor that is found in the cerebellum or posterior fossa. The tumor mass increases and generate...
In childhood, the most common type of brain tumors is medulloblastoma, a highly malignant primary brain tumor that is found in the cerebellum or posterior fossa. The tumor mass increases and generates obstructive hydrocephalus. Risk factors (that might be involved in some cases) include the genetic syndrome such as type 1 neurofibromatosis, exposure to ionizing radiation and Epstein-Barr virus. Medulloblastoma is associated with recessively inherited Turcot disease and with conditions as ataxia-telangiectasia syndrome in several cases. The authors presented two cases of female patients (aged one year and eight months old, respectively 4-year-old), both of them with weight deficiency, with personal history of head trauma. First case, M.D.M., was admitted in Emergency Room of the Emergency County Hospital, Craiova, Romania, for symptoms that included headaches, impaired vision, vomiting, mental disorders, ataxia and body imbalance. The reason for refer to the Surgical Unit care was posterior fossa tumor diagnosed by computed tomography (CT) scan. The second case, V.F., a 4-year-old girl, was admitted to First Pediatrics Clinic of the same Hospital, on October 2014, for seizures, early morning vomiting, loss of appetite, inability to walk and stand and also, mental delay. She had "café au lait" spots on her trunk, suggesting type 1 neurofibromatosis. A brain CT scan revealed a tumor being developed in the fourth ventricle (in the vermis of the cerebellum). Both the girls underwent curative surgery in different Clinics from Bucharest. The two girls with the same diagnosis showed contrasting post-surgical evolution: M.D.M. still survives, while V.F. survived only for six months following first surgical intervention. The first patient, M.D.M., received chemotherapy before and after the surgery, which a slow but favorable recovery noted. For the second patient, the brain CT scan performed four months after surgery showed multiple masses in the cerebral posterior fossa, suggestive of leptomeningeal metastases, but without local recurrence of the medulloblastoma. The patient started chemotherapy and, after two sessions, she went for second surgical treatment. Six months after the second surgery, the second female patient, V.F., died. The objective of this study is to find the reasons of their different clinical evolution. The authors emphasized the clinical similarities of the patients, both being female, having similar symptoms and incidental medical events (upper and lower respiratory tract infections and head trauma) but most important, they stressed out the factors which contributed to the different clinical outcome, the second patient having a more aggressive form of medulloblastoma and receiving chemotherapy only after leptomeningeal metastases were evidenced. In addition, as for the second patient, she might had clinical criteria for type 1 neurofibromatosis (the author specified the number of the "café au lait" spots being over 6, like her brother, mental delay, without other clinical signs), which might have contributed to the poor outcome. The etiology of medulloblastoma can also be involved with chromosome 17 and the diagnosis of such a brain tumor can be an evolutive criterion for neurofibromatosis. The diagnosis can provided only by genetic tests. There is a vital risk and a reason for the lethal evolution of V.F.
- Fecundity in an infertile man with r(15) - a challenge to the current paradigm. [Journal Article]
- RBReprod Biomed Online 2018; 36(2):210-218
- Ring chromosome 15 [r(15)] is a rare condition with a mild-to-severe growth failure, mental disabilities, café-au-lait spots, specific facial features, fertility difficulties and other minor dysmorph...
Ring chromosome 15 [r(15)] is a rare condition with a mild-to-severe growth failure, mental disabilities, café-au-lait spots, specific facial features, fertility difficulties and other minor dysmorphic stigmata. Of almost 50 affected individuals reported in the literature, none were assessed for the precise breakpoint positioning, which creates uncertainty in defining a specific phenotype for the deleted segment. This study reports for the first time the vertical transmission of r(15) in three consecutive generations of a family, including a subfertile man, his mother and his newborn infant. Array comparative genomic hybridization results revealed a 563 kb deletion of 15q26.3, overlapping the OMIM genes SNRP1, PCSK6 and TM2D3. The hemizygosity was confirmed with real-time quantitative PCR. Regarding haploinsufficiency in 15q26.3, based on phenotypic characteristics of the carriers, the only rational conclusion is that SNRPA1, PCSK6 and TM2D3 are not gene-dosage sensitive and are probably inherited in an autosomal-recessive manner. Given growth deficiency in r(15) carriers, this shows that the growth retardation cannot be attributed entirely to IGF1R. The predominance of female patients with r(15) is the next as yet unanswered question; incomplete penetrance and/or variable expression of gene(s) in different genders may be involved, but further evidence is needed to support this idea.
- Plexiform Neurofibroma of Clitoris. [Journal Article]
- JPJ Pediatr Genet 2017; 6(4):244-246
- The most frequent genital presentation of neurofibromatosis in females is clitoromegaly. We report a case of a 5-year-old girl with neurofibromatosis type 1 with clitoral plexiform neurofibromatosis....
The most frequent genital presentation of neurofibromatosis in females is clitoromegaly. We report a case of a 5-year-old girl with neurofibromatosis type 1 with clitoral plexiform neurofibromatosis. Clitoroplasty was done, and the histopathology confirmed the diagnosis. Though rare, plexiform neurofibroma of clitoris should always be considered as a differential diagnosis in children with clitoromegaly before embarking on detailed investigations.
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- Picosecond 532-nm neodymium-doped yttrium aluminium garnet laser-a novel and promising modality for the treatment of café-au-lait macules. [Journal Article]
- LMLasers Med Sci 2017 Nov 02
- Café-au-lait macules (CALMs) present as benign hyperpigmented, well-circumscribed spots on the skin for which many patients seek treatment for aesthetic reasons. The objective of this study is to rep...
Café-au-lait macules (CALMs) present as benign hyperpigmented, well-circumscribed spots on the skin for which many patients seek treatment for aesthetic reasons. The objective of this study is to report our experience in treating CALMs using a picosecond 532-nm neodymium-doped yttrium aluminium garnet (PS 532 nm) laser. This is a retrospective case series of 16 patients with CALMs who were treated by a PS 532-nm laser (1-4 treatments, 4-8 weeks apart). Response as seen on clinical photographs was assessed by two independent dermatologists and graded on a scale of 0 (exacerbation) to 5 (95-100% improvement). Patient satisfaction and tolerance were documented at final visit. The results of 15 patients demonstrated significant improvement (average 3.43), and their satisfaction and tolerance levels were high. One patient had no response whatsoever to treatment. The PS 532-nm laser is a promising novel modality for the treatment of CALMs.