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Case report: Cerebellar swelling and hydrocephalus in familial hemophagocytic lymphohistiocytosis

Familial hemophagocytic lymphohistiocytosis (FHL) is a severe inborn error of immunity caused by a genetic defect that impairs the function of cytotoxic T and NK cells. There are only a few reported cases of FHL with diffuse swelling of the cerebellum and obstructive hydrocephalus. We report a case...

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Autores principales: Yoshida, Taro, Moriya, Kunihiko, Oikawa, Keisuke, Miura, Shoko, Asakura, Yoshiko, Tanifuji, Sachiko, Kusano, Shuji, Endo, Mikiya, Akasaka, Manami
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9800833/
https://www.ncbi.nlm.nih.gov/pubmed/36589154
http://dx.doi.org/10.3389/fped.2022.1051623
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author Yoshida, Taro
Moriya, Kunihiko
Oikawa, Keisuke
Miura, Shoko
Asakura, Yoshiko
Tanifuji, Sachiko
Kusano, Shuji
Endo, Mikiya
Akasaka, Manami
author_facet Yoshida, Taro
Moriya, Kunihiko
Oikawa, Keisuke
Miura, Shoko
Asakura, Yoshiko
Tanifuji, Sachiko
Kusano, Shuji
Endo, Mikiya
Akasaka, Manami
author_sort Yoshida, Taro
collection PubMed
description Familial hemophagocytic lymphohistiocytosis (FHL) is a severe inborn error of immunity caused by a genetic defect that impairs the function of cytotoxic T and NK cells. There are only a few reported cases of FHL with diffuse swelling of the cerebellum and obstructive hydrocephalus. We report a case of FHL3 with neurological symptoms associated with cerebellar swelling and obstructive hydrocephalus. A male patient was hospitalized several times due to fever and decreased feeding, hepatosplenomegaly, and cytopenia since the first month of life. At 7 months of age, disturbance of consciousness was seen. Brain magnetic resonance imaging revealed signal intensity in the bilateral cerebellar hemispheres, diffusely increased periventricular white matter, and ventriculomegaly. Although he was treated with methylprednisolone pulse therapy, he was unresponsive to the treatment. He was then transferred to a local hospital after tracheotomy but died. Targeted clinical sequencing revealed a homozygous splice-site mutation in UNC13D. Pediatric hemophagocytic lymphohistiocytosis (HLH) includes some cases of central nervous symptom (CNS)-isolated HLH or CNS HLH preceding systemic lesions, which often do not initially meet the diagnostic criteria for FHL. Patients with FHL initiated by cerebellar symptoms may present with an atypical clinical course for HLH, leading to delayed diagnosis and poor outcomes. Despite the usefulness of a combination of a high percentage of lymphocytes in the peripheral leukocytes, a low lactate dehydrogenase level, and a high sIL-2R/ferritin ratio for identifying FHL, the diagnosis may be missed due to the absence of these results. Presymptomatic diagnosis of FHL by screening of newborns and subsequent early treatment of patients with a predicted poor prognosis may contribute to better outcomes.
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spelling pubmed-98008332022-12-31 Case report: Cerebellar swelling and hydrocephalus in familial hemophagocytic lymphohistiocytosis Yoshida, Taro Moriya, Kunihiko Oikawa, Keisuke Miura, Shoko Asakura, Yoshiko Tanifuji, Sachiko Kusano, Shuji Endo, Mikiya Akasaka, Manami Front Pediatr Pediatrics Familial hemophagocytic lymphohistiocytosis (FHL) is a severe inborn error of immunity caused by a genetic defect that impairs the function of cytotoxic T and NK cells. There are only a few reported cases of FHL with diffuse swelling of the cerebellum and obstructive hydrocephalus. We report a case of FHL3 with neurological symptoms associated with cerebellar swelling and obstructive hydrocephalus. A male patient was hospitalized several times due to fever and decreased feeding, hepatosplenomegaly, and cytopenia since the first month of life. At 7 months of age, disturbance of consciousness was seen. Brain magnetic resonance imaging revealed signal intensity in the bilateral cerebellar hemispheres, diffusely increased periventricular white matter, and ventriculomegaly. Although he was treated with methylprednisolone pulse therapy, he was unresponsive to the treatment. He was then transferred to a local hospital after tracheotomy but died. Targeted clinical sequencing revealed a homozygous splice-site mutation in UNC13D. Pediatric hemophagocytic lymphohistiocytosis (HLH) includes some cases of central nervous symptom (CNS)-isolated HLH or CNS HLH preceding systemic lesions, which often do not initially meet the diagnostic criteria for FHL. Patients with FHL initiated by cerebellar symptoms may present with an atypical clinical course for HLH, leading to delayed diagnosis and poor outcomes. Despite the usefulness of a combination of a high percentage of lymphocytes in the peripheral leukocytes, a low lactate dehydrogenase level, and a high sIL-2R/ferritin ratio for identifying FHL, the diagnosis may be missed due to the absence of these results. Presymptomatic diagnosis of FHL by screening of newborns and subsequent early treatment of patients with a predicted poor prognosis may contribute to better outcomes. Frontiers Media S.A. 2022-12-16 /pmc/articles/PMC9800833/ /pubmed/36589154 http://dx.doi.org/10.3389/fped.2022.1051623 Text en © 2022 Yoshida, Moriya, Oikawa, Miura, Asakura, Tanifuji, Kusano, Endo and Akasaka. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Yoshida, Taro
Moriya, Kunihiko
Oikawa, Keisuke
Miura, Shoko
Asakura, Yoshiko
Tanifuji, Sachiko
Kusano, Shuji
Endo, Mikiya
Akasaka, Manami
Case report: Cerebellar swelling and hydrocephalus in familial hemophagocytic lymphohistiocytosis
title Case report: Cerebellar swelling and hydrocephalus in familial hemophagocytic lymphohistiocytosis
title_full Case report: Cerebellar swelling and hydrocephalus in familial hemophagocytic lymphohistiocytosis
title_fullStr Case report: Cerebellar swelling and hydrocephalus in familial hemophagocytic lymphohistiocytosis
title_full_unstemmed Case report: Cerebellar swelling and hydrocephalus in familial hemophagocytic lymphohistiocytosis
title_short Case report: Cerebellar swelling and hydrocephalus in familial hemophagocytic lymphohistiocytosis
title_sort case report: cerebellar swelling and hydrocephalus in familial hemophagocytic lymphohistiocytosis
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9800833/
https://www.ncbi.nlm.nih.gov/pubmed/36589154
http://dx.doi.org/10.3389/fped.2022.1051623
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