Pituitary stalk thickening with diabetes insipidus preceding typical manifestations of Langerhans cell histiocytosis in children

1993 ◽  
Vol 152 (5) ◽  
pp. 399-401 ◽  
Author(s):  
S. Schmitt ◽  
W. Wichmann ◽  
E. Martin ◽  
M. Zachmann ◽  
E. J. Schoenle
Keyword(s):  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Pituitary Stalk ◽  
Pituitary Stalk Thickening

scholarly journals Central Diabetes Insipidus as the Inaugural Manifestation of Langerhans Cell Histiocytosis: Natural History and Medical Evaluation of 26 Children and Adolescents

2011 ◽  
Vol 96 (9) ◽  
pp. E1352-E1360 ◽  
Author(s):  
Isis Marchand ◽  
Mohamed Aziz Barkaoui ◽  
Catherine Garel ◽  
Michel Polak ◽  
Jean Donadieu ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Third Ventricle ◽  
Langerhans Cell ◽  
Central Diabetes Insipidus ◽  
Pituitary Stalk ◽  
The Third ◽  
Mri Features ◽  
Pituitary Stalk Thickening

Abstract Context: Isolated central diabetes insipidus (CDI) can be the first manifestation of Langerhans cell histiocytosis (LCH), creating diagnostic dilemmas such as dysgerminoma and other inflammatory lesions. Method: In 2010, the French national LCH registry had enrolled 1236 LCH patients under 18 yr of age. Isolated CDI was the initial presentation of LCH in 26 patients. We reviewed their clinical and magnetic resonance imaging (MRI) features. Results: Median age at the diagnosis of CDI was 9.6 yr (1.8–16.3), and median follow-up after CDI diagnosis was 9.9 yr (3.5–26.6). In addition to CDI, two patients had visual field defects, four had secondary amenorrhea, and 11 had anterior pituitary deficiency. Cerebral imaging (including computed tomography in two cases), performed in 22 patients within 3 months of CDI diagnosis, showed pituitary stalk thickening in 14 patients, which was moderate (3.0–7 mm) in nine cases and marked (>7 mm) in five cases. In eight cases, the lesion extended to the floor of the third ventricle. One child with LCH presented with a mild enlarged sellar content. During follow-up, 22 patients developed extrapituitary involvement, mainly of bone (n = 15), lung (n = 9), and skin (n = 9). Pituitary biopsy was performed in eight cases and was conclusive in six cases. Conclusions: Pituitary stalk thickening can be observed in LCH as well as lesions extending to the floor of the third ventricle. In all cases but one, the intrasellar content was not enlarged. Long-term follow-up with close attention to bone, skin, and lung disorders may lead to the diagnosis of LCH.

scholarly journals Occult Langerhans Cell Histiocytosis Presenting with Papillary Thyroid Carcinoma, a Thickened Pituitary Stalk and Diabetes Insipidus

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Michael S. Gordon ◽  
Murray B. Gordon
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Hypogonadotropic Hypogonadism ◽  
Langerhans Cell ◽  
Pituitary Stalk ◽  
Bright Spot ◽  
Molecular Testing ◽  
Papillary Thyroid

Etiologies of a thickened stalk include inflammatory, neoplastic, and idiopathic origins, and the underlying diagnosis may remain occult. We report a patient with a thickened pituitary stalk (TPS) and papillary thyroid carcinoma (PTC) whose diagnosis remained obscure until a skin lesion appeared. The patient presented with PTC, status postthyroidectomy, and I131therapy. PTC molecular testing revealed BRAF mutant (V600E, GTC>GAG). She had a 5-year history of polyuria/polydipsia. Overnight dehydration study confirmed diabetes insipidus (DI). MRI revealed TPS with loss of the posterior pituitary bright spot. Evaluation showed hypogonadotropic hypogonadism and low IGF-1. Chest X-ray and ACE levels were normal. Radiographs to evaluate for extrapituitary sites of Langerhans Cell Histiocytosis (LCH) were unremarkable. Germinoma studies were negative: normal serum and CSF beta-hCG, alpha-fetoprotein, and CEA. Three years later, the patient developed vulvar labial lesions followed by inguinal region skin lesions, biopsy of which revealed LCH. Reanalysis of thyroid pathology was consistent with concurrent LCH, PTC, and Hashimoto’s thyroiditis within the thyroid. This case illustrates that one must be vigilant for extrapituitary manifestations of systemic diseases to diagnose the etiology of TPS. An activating mutation of the protooncogene BRAF is a potential unifying etiology of both PTC and LCH.

Central diabetes insipidus as a very late relapse limited to the pituitary stalk in Langerhans cell histiocytosis

2016 ◽  
Vol 29 (7) ◽  
Author(s):  
Shunsuke Nakagawa ◽  
Yuichi Shinkoda ◽  
Daisuke Hazeki ◽  
Mari Imamura ◽  
Yasuhiro Okamoto ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Central Diabetes Insipidus ◽  
Pituitary Stalk ◽  
Hormone Deficiency ◽  
Late Relapse ◽  
Pituitary Hormone ◽  
Anterior Pituitary Hormone ◽  
The Central Nervous System

AbstractCentral diabetes insipidus (CDI) and relapse are frequently seen in multifocal Langerhans cell histiocytosis (LCH). We present two females with multifocal LCH who developed CDI 9 and 5 years after the initial diagnosis, respectively, as a relapse limited to the pituitary stalk. Combination chemotherapy with cytarabine reduced the mass in the pituitary stalk. Although CDI did not improve, there has been no anterior pituitary hormone deficiency (APHD), neurodegenerative disease in the central nervous system (ND-CNS) or additional relapse for 2 years after therapy. It was difficult to predict the development of CDI in these cases. CDI might develop very late in patients with multifocal LCH, and therefore strict follow-up is necessary, especially with regard to symptoms of CDI such as polydipsia and polyuria. For new-onset CDI with LCH, chemotherapy with cytarabine might be useful for preventing APHD and ND-CNS.

scholarly journals ddPCR Analysis Reveals BRAF V600E Mutations Are Infrequent in Isolated Pituitary Langerhans Cell Histiocytosis Patients

2020 ◽  
Vol 79 (12) ◽  
pp. 1313-1319
Author(s):  
Anandani Nellan ◽  
Avery Bodlak ◽  
David M Mirsky ◽  
Jean Mulcahy Levy ◽  
Timothy P Garrington ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Pediatric Patients ◽  
Braf V600e Mutation ◽  
Langerhans Cell ◽  
Braf V600e ◽  
Pituitary Stalk ◽  
Molecular Alteration ◽  
Polymerase Chain ◽  
Myeloid Neoplasia ◽  
Pituitary Stalk Thickening

Abstract Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with a highly variable clinical presentation affecting people of all ages. Mutations in BRAF V600E are the most identifiable molecular alteration in LCH although its incidence in pediatric patients with isolated pituitary stalk involvement is not well described. Pediatric patients with LCH and isolated pituitary stalk involvement typically present with central diabetes insipidus. Diagnosis requires a transcranial biopsy which often yields scant tissue. We sought to determine the prevalence of BRAF V600E mutations in patients with isolated pituitary stalk LCH using digital droplet polymerase chain reaction because this method requires minimal tumor DNA. We identified 8 patients with isolated pituitary stalk thickening who underwent a biopsy at Children’s Hospital Colorado from January 2001 to December 2019, as well as 6 patients with systemic LCH diagnosed by biopsy in the same period as a comparison. Only one out of the 8 patients with isolated thickened pituitary stalk was found to have a detectable BRAF V600E mutation. Five out of the 6 patients with systemic LCH had a detectable BRAF V600E mutation. In our series, BRAF V600E mutations are rare in pediatric patients with LCH and isolated pituitary stalk involvement.

Central diabetes insipidus: Is it Langerhans cell histiocytosis of the pituitary stalk? A diagnostic pitfall

2006 ◽  
Vol 46 (3) ◽  
pp. 363-366 ◽  
Author(s):  
Helmut Prosch ◽  
Nicole Grois ◽  
Jos Bökkerink ◽  
Daniela Prayer ◽  
Ivo Leuschner ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Central Diabetes Insipidus ◽  
Pituitary Stalk ◽  
Diagnostic Pitfall

Central diabetes insipidus revealing Langerhans cell histiocytosis

2019 ◽  
Author(s):  
Najoua Lassoued ◽  
Salmane Wannes ◽  
Asma Wardani ◽  
Abir Omrane ◽  
Raoudha Boussofara ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Central Diabetes Insipidus

Monostotic Langerhans' Cell Histiocytosis in a Child with Central Diabetes Insipidus

2012 ◽  
Vol 36 (4) ◽  
pp. 377-381 ◽  
Author(s):  
E Costa Studart Soares ◽  
ARP Quidute ◽  
FW Gurgel Costa ◽  
MH Costa Gurgel ◽  
AP Negreiros Nunes Alves ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Reticuloendothelial System ◽  
Langerhans Cell ◽  
Central Diabetes Insipidus ◽  
Important Indicator ◽  
Presenting Symptoms ◽  
Dental Practitioners ◽  
Multi Agent ◽  
Underlying Diseases

Langerhans' cell histiocytosis (LCH) comprises a rare group of reticuloendothelial system disorders that can produce focal or systemic manifestations. Diabetes insipidus is considered to be an important indicator of serious underlying diseases in children, including LCH. We report the case of a young patient with monostotic LCH confined to the mandibular ramus, who was diagnosed with the disease after presenting symptoms of central diabetes insipidus and was satisfactorily treated with multi-agent chemotherapy. Additionally, we discuss the clinical, radiographic, histological and immunohistochemical findings, as well as the multidisciplinary approach of this important disease, which should receive attention by dental practitioners, especially when it occurs in children.

scholarly journals Topical Imiquimod for the Treatment of Relapsed Cutaneous Langerhans Cell Histiocytosis after Chemotherapy in an Elderly Patient

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Shinsaku Imashuku ◽  
Miyako Kobayashi ◽  
Yoichi Nishii ◽  
Keisuke Nishimura
Keyword(s):  
Elderly Patient ◽  
Elderly Patients ◽  
Diabetes Insipidus ◽  
Cytosine Arabinoside ◽  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Central Diabetes Insipidus ◽  
Diagnosis And Treatment ◽  
Topical Imiquimod ◽  
Multiagent Chemotherapy

Diagnosis and treatment of Langerhans cell histiocytosis (LCH) in elderly patients are often difficult. We report here a 61-year-old female suffering from a refractory axillary ulcer for nearly a year, whose biopsy revealed LCH. It was also noted that the patient had other cutaneous papulovesicular eruptions of LCH as well as central diabetes insipidus. The patient was first successfully treated with multiagent chemotherapy (cytosine arabinoside/vinblastine/prednisolone). DDAVP also well controlled diabetes insipidus; however, the axillary ulcer and cutaneous LCH relapsed. Thereafter, we found topical imiquimod to be effective in the treatment of relapsed cutaneous LCH lesions.

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