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Infantile-Onset Isolated Neurohypophyseal Langerhans Cell Histiocytosis with Central Diabetes Insipidus: A Case Report
Central diabetes insipidus (CDI) is a rare disease in children and has a variety of etiologies. The major causes of CDI with pituitary stalk thickening (PST) are germinoma, Langerhans cell histiocytosis (LCH), and Lymphocytic infundibulo-neurohypophysitis, which are difficult to differentiate by ima...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139757/ https://www.ncbi.nlm.nih.gov/pubmed/35626895 http://dx.doi.org/10.3390/children9050716 |
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author | Tani, Mizuki Hiroshima, Shota Sato, Hidetoshi Sawano, Kentaro Ogawa, Yohei Imamura, Masaru Oishi, Makoto Nagasaki, Keisuke |
author_facet | Tani, Mizuki Hiroshima, Shota Sato, Hidetoshi Sawano, Kentaro Ogawa, Yohei Imamura, Masaru Oishi, Makoto Nagasaki, Keisuke |
author_sort | Tani, Mizuki |
collection | PubMed |
description | Central diabetes insipidus (CDI) is a rare disease in children and has a variety of etiologies. The major causes of CDI with pituitary stalk thickening (PST) are germinoma, Langerhans cell histiocytosis (LCH), and Lymphocytic infundibulo-neurohypophysitis, which are difficult to differentiate by imaging and require pathological diagnosis. We report a case of infantile-onset isolated neurohypophyseal LCH diagnosed by pathological findings. A 2-year-old girl presented with polydipsia and polyuria. CDI was diagnosed and treatment with oral desmopressin was initiated. Magnetic resonance imaging (MRI) of the head showed PST and absence of high-signal intensity of posterior pituitary on T1-weighted images. Follow-up MRI scans showed that the tumor mass was gradually increasing and extending posteriorly toward the area near the mamillary body. Simultaneously, anterior pituitary dysfunction was observed. She underwent a biopsy of the PST and LCH was diagnosed by immunohistochemical analysis. DNA analysis showed no BRAF V600E mutation. Monotherapy with 2-Chlorodeoxyadenosine reduced the tumor size but did not improve pituitary function. Isolated neurohypophyseal LCH should be considered in infantile-onset cases of CDI with PST. 2-CdA treatment resulted in rapid PST shrinkage. Further cases are needed to determine whether early diagnosis and treatment can prevent anterior pituitary dysfunction. |
format | Online Article Text |
id | pubmed-9139757 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-91397572022-05-28 Infantile-Onset Isolated Neurohypophyseal Langerhans Cell Histiocytosis with Central Diabetes Insipidus: A Case Report Tani, Mizuki Hiroshima, Shota Sato, Hidetoshi Sawano, Kentaro Ogawa, Yohei Imamura, Masaru Oishi, Makoto Nagasaki, Keisuke Children (Basel) Case Report Central diabetes insipidus (CDI) is a rare disease in children and has a variety of etiologies. The major causes of CDI with pituitary stalk thickening (PST) are germinoma, Langerhans cell histiocytosis (LCH), and Lymphocytic infundibulo-neurohypophysitis, which are difficult to differentiate by imaging and require pathological diagnosis. We report a case of infantile-onset isolated neurohypophyseal LCH diagnosed by pathological findings. A 2-year-old girl presented with polydipsia and polyuria. CDI was diagnosed and treatment with oral desmopressin was initiated. Magnetic resonance imaging (MRI) of the head showed PST and absence of high-signal intensity of posterior pituitary on T1-weighted images. Follow-up MRI scans showed that the tumor mass was gradually increasing and extending posteriorly toward the area near the mamillary body. Simultaneously, anterior pituitary dysfunction was observed. She underwent a biopsy of the PST and LCH was diagnosed by immunohistochemical analysis. DNA analysis showed no BRAF V600E mutation. Monotherapy with 2-Chlorodeoxyadenosine reduced the tumor size but did not improve pituitary function. Isolated neurohypophyseal LCH should be considered in infantile-onset cases of CDI with PST. 2-CdA treatment resulted in rapid PST shrinkage. Further cases are needed to determine whether early diagnosis and treatment can prevent anterior pituitary dysfunction. MDPI 2022-05-13 /pmc/articles/PMC9139757/ /pubmed/35626895 http://dx.doi.org/10.3390/children9050716 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Tani, Mizuki Hiroshima, Shota Sato, Hidetoshi Sawano, Kentaro Ogawa, Yohei Imamura, Masaru Oishi, Makoto Nagasaki, Keisuke Infantile-Onset Isolated Neurohypophyseal Langerhans Cell Histiocytosis with Central Diabetes Insipidus: A Case Report |
title | Infantile-Onset Isolated Neurohypophyseal Langerhans Cell Histiocytosis with Central Diabetes Insipidus: A Case Report |
title_full | Infantile-Onset Isolated Neurohypophyseal Langerhans Cell Histiocytosis with Central Diabetes Insipidus: A Case Report |
title_fullStr | Infantile-Onset Isolated Neurohypophyseal Langerhans Cell Histiocytosis with Central Diabetes Insipidus: A Case Report |
title_full_unstemmed | Infantile-Onset Isolated Neurohypophyseal Langerhans Cell Histiocytosis with Central Diabetes Insipidus: A Case Report |
title_short | Infantile-Onset Isolated Neurohypophyseal Langerhans Cell Histiocytosis with Central Diabetes Insipidus: A Case Report |
title_sort | infantile-onset isolated neurohypophyseal langerhans cell histiocytosis with central diabetes insipidus: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139757/ https://www.ncbi.nlm.nih.gov/pubmed/35626895 http://dx.doi.org/10.3390/children9050716 |
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