scholarly journals Central precocious puberty in a girl with LEGIUS syndrome: an accidental association?

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Valentina Orlandi ◽  
Paolo Cavarzere ◽  
Laura Palma ◽  
Rossella Gaudino ◽  
Franco Antoniazzi
Keyword(s):  
Genetic Analysis ◽  
Precocious Puberty ◽  
Central Precocious Puberty ◽  
Neurofibromatosis Type ◽  
Case Presentation ◽  
New Variant ◽  
Legius Syndrome ◽  
Timing Of Puberty ◽  
First Time

Abstract Background Central precocious puberty is a condition characterized by precocious activation of the hypothalamic-pituitary-gonadal axis. It may be idiopathic or secondary to organic causes, including syndromes such as Neurofibromatosis type 1 (NF1). Case presentation We presented a girl of 6 years and 10 months with almost 11 café-au-lait skin macules, without other clinical or radiological signs typical of NF1, and with a central precocious puberty. Genetic analysis evidenced the new variant NM-152594.2:c.304delAp. (Thr102Argfs*19) in SPRED1 gene, which allowed to diagnose Legius syndrome. Conclusions We report for the first time a case of central precocious puberty in a girl with Legius syndrome. The presence of central precocious puberty in a child with characteristic café-au-lait macules should suggest pediatricians to perform genetic analysis in order to reach a definitive diagnosis. Further studies on timing of puberty in patients with RASopathies are needed to better elucidate if this clinical association is casual or secondary to their clinical condition.

scholarly journals Central precocious puberty due to hypothalamic hamartoma in neurofibromatosis type 1

HORMONES ◽  
2016 ◽  
Vol 15 (1) ◽  
pp. 144-146 ◽  
Author(s):  
Emanuele Bartolini ◽  
Stefano Stagi ◽  
Perla Scalini ◽  
Andrea Bianchi ◽  
Antonio Ciccarone ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Neurofibromatosis Type 1 ◽  
Central Precocious Puberty ◽  
Neurofibromatosis Type ◽  
Hypothalamic Hamartoma

scholarly journals Central precocious puberty due to hypothalamic hamartoma in neurofibromatosis type 1

HORMONES ◽  
2015 ◽  
Author(s):  
Emanuele Bartolini ◽  
Stefano Stagi ◽  
Perla Scalini ◽  
Andrea Bianchi ◽  
Antonio Ciccarone ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Neurofibromatosis Type 1 ◽  
Central Precocious Puberty ◽  
Neurofibromatosis Type ◽  
Hypothalamic Hamartoma

scholarly journals EXPRESS: Pulmonary Hypertension Associated With Neurofibromatosis Type 2

2021 ◽  
pp. 204589402110295
Author(s):  
Hirohisa Taniguchi ◽  
Tomoya Takashima ◽  
Ly Tu ◽  
Raphaël Thuillet ◽  
Asuka Furukawa ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Neurofibromatosis Type ◽  
Pulmonary Vascular Remodeling ◽  
Life Threatening ◽  
History Of ◽  
Pulmonary Arterial ◽  
First Time

Although precapillary pulmonary hypertension (PH) is a rare but severe complication of patients with neurofibromatosis type 1 (NF1), its association with NF2 remains unknown. Herein, we report a case of a 44-year-old woman who was initially diagnosed with idiopathic pulmonary arterial hypertension (IPAH) and treated with PAH-specific combination therapy. However, a careful assessment for a relevant family history of the disease and genetic testing reveal that this patient had a mutation in the NF2 gene. Using immunofluorescence and Western blotting, we demonstrated a decrease in endothelial NF2 protein in lungs from IPAH patients compared to control lungs, suggesting a potential role of NF2 in PAH development. To our knowledge, this is the first time that precapillary PH has been described in a patient with NF2. The altered endothelial NF2 expression pattern in PAH lungs should stimulate work to better understand how NF2 is contributing to the pulmonary vascular remodeling associated to these severe life-threatening conditions.

scholarly journals Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1

2018 ◽  
Vol 178 (2) ◽  
pp. K1-K9 ◽  
Author(s):  
Laura Gieldon ◽  
Jimmy Rusdian Masjkur ◽  
Susan Richter ◽  
Roland Därr ◽  
Marcos Lahera ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Clinical Diagnosis ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Germline Mutations ◽  
Next Generation ◽  
Medullary Thyroid

Objective Our objective was to improve molecular diagnostics in patients with hereditary pheochromocytoma and paraganglioma (PPGL) by using next-generation sequencing (NGS) multi-gene panel analysis. Derived from this study, we here present three cases that were diagnosed with NF1 germline mutations but did not have a prior clinical diagnosis of neurofibromatosis type 1 (NF1). Design We performed genetic analysis of known tumor predisposition genes, including NF1, using a multi-gene NGS enrichment-based panel applied to a total of 1029 PPGL patients. We did not exclude genes known to cause clinically defined syndromes such as NF1 based on missing phenotypic expression as is commonly practiced. Methods Genetic analysis was performed using NGS (TruSight Cancer Panel/customized panel by Illumina) for analyzing patients’ blood and tumor samples. Validation was carried out by Sanger sequencing. Results Within our cohort, three patients, who were identified to carry pathogenic NF1 germline mutations, attracted attention, since none of the patients had a clinical suspicion of NF1 and one of them was initially suspected to have MEN2A syndrome due to co-occurrence of a medullary thyroid carcinoma. In these cases, one splice site, one stop and one frameshift mutation in NF1 were identified. Conclusions Since phenotypical presentation of NF1 is highly variable, we suggest analysis of the NF1 gene also in PPGL patients who do not meet diagnostic NF1 criteria. Co-occurrence of medullary thyroid carcinoma and PPGL was found to be a clinical decoy in NF1 diagnostics. These observations underline the value of multi-gene panel NGS for PPGL patients.

scholarly journals Newborn Apnea Caused by a Neurofibroma at the Craniocervical Junction

1994 ◽  
Vol 21 (1) ◽  
pp. 64-66 ◽  
Author(s):  
David B. Clarke ◽  
Jean-Pierre Farmer ◽  
José L. Montes ◽  
Gordon V. Watters ◽  
Guy Rouleau
Keyword(s):  
Neurofibromatosis Type ◽  
Craniocervical Junction ◽  
Cervical Cord ◽  
Subtotal Resection ◽  
Upper Respiratory Tract ◽  
Brainstem Compression ◽  
Upper Cervical ◽  
First Time ◽  
Dependent Patient

ABSTRACT:The authors report, for the first time, the finding by magnetic resonance imaging of a neurofibroma at the craniocervical junction with upper cervical cord and lower brainstem compression causing complete apnea from birth. Subsequent subtotal resection of the neurofibroma resulted in the successful extubation of a previously ventilator-dependent patient. After a two month period of breathing spontaneously, the newborn developed an upper respiratory tract infection and was reintubated. The patient, unable to be weaned off of the respirator, was extubated and expired shortly thereafter, at the age of five months. The authors suggest that in newborns with unexplained apnea, MRI of the craniocervical junction is indicated. Certain patients may be discovered who have less compromised cervicomedullary function and are afflicted by less aggressive forms of neurofibromatosis type 1. These patients may benefit permanently from a surgical decompression.

Neurofibromatosis Type 1 and Precocious Puberty

2000 ◽  
Vol 13 (Supplement) ◽  
Author(s):  
R. Virdis ◽  
M. Sigorini ◽  
A. Laiolo ◽  
E. Lorenzetti ◽  
M.E. Street ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals Diffuse neurofibroma of the chest and abdominal wall invading the diaphragm leads to diaphragmatic eventration: case report

BMC Surgery ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Xian-shuai Li ◽  
Shu-qian He ◽  
Xian-guo Chen
Keyword(s):  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
High Rate ◽  
Biological Behavior ◽  
New Mutation ◽  
Case Presentation ◽  
Variable Expression ◽  
Diaphragmatic Eventration ◽  
Dominant Condition

Abstract Background Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a high rate of new mutation and variable expression. Diffuse neurofibroma of the epidermis invading deeper organs is rare.We report a case of diffuse subcutaneous neurofibroma in the thoracoabdominal wall which had invaded the diaphragm and caused diaphragmatic eventration. Case presentation We describe a patient with diffuse neurofibroma of the chest and abdomen who was admitted to the hospital due to sudden abdominal pain and a possible diaphragmatic hernia. We performed thoracotomy and found that the neurofibroma had invaded the diaphragm and caused diaphragmatic eventration. Conclusions This occurrence has not been reported, and it shows that although neurofibromatosis is a benign disease, it still has the biological behavior of a malignant tumor and may cause a serious impact on and damage to other organs.

scholarly journals Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants

2021 ◽  
Author(s):  
Hildegard Kehrer-Sawatzki ◽  
David N. Cooper
Keyword(s):  
Young Children ◽  
Diagnostic Criteria ◽  
Neurofibromatosis Type 1 ◽  
Early Adulthood ◽  
Neurofibromatosis Type ◽  
Clinical Feature ◽  
Pathogenic Variants ◽  
Legius Syndrome ◽  
Nf1 Gene

AbstractNeurofibromatosis type 1 (NF1) is the most frequent disorder associated with multiple café-au-lait macules (CALM) which may either be present at birth or appear during the first year of life. Other NF1-associated features such as skin-fold freckling and Lisch nodules occur later during childhood whereas dermal neurofibromas are rare in young children and usually only arise during early adulthood. The NIH clinical diagnostic criteria for NF1, established in 1988, include the most common NF1-associated features. Since many of these features are age-dependent, arriving at a definitive diagnosis of NF1 by employing these criteria may not be possible in infancy if CALM are the only clinical feature evident. Indeed, approximately 46% of patients who are diagnosed with NF1 later in life do not meet the NIH diagnostic criteria by the age of 1 year. Further, the 1988 diagnostic criteria for NF1 are not specific enough to distinguish NF1 from other related disorders such as Legius syndrome. In this review, we outline the challenges faced in diagnosing NF1 in young children, and evaluate the utility of the recently revised (2021) diagnostic criteria for NF1, which include the presence of pathogenic variants in the NF1 gene and choroidal anomalies, for achieving an early and accurate diagnosis.

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