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Low-Frequency Sensorineural Hearing Loss in Familial Hemophagocytic Lymphohistiocytosis Type 5.

Abstract Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease affecting the cytotoxic pathway. Due to the recent advances in molecular diagnosis, immuno-chemo therapy, and hematopoietic stem cell transplantation treatment, FHL survival rates have drastically increased.
PMID
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Authors

Mayor MeshTerms
Keywords

STXBP2 protein

hemophagocytic lymphohistiocytosis

sensorineural hearing loss

Journal Title the annals of otology, rhinology, and laryngology
Publication Year Start




PMID- 29776323
OWN - NLM
STAT- MEDLINE
DCOM- 20180525
LR  - 20180525
IS  - 1943-572X (Electronic)
IS  - 0003-4894 (Linking)
VI  - 127
IP  - 6
DP  - 2018 Jun
TI  - Low-Frequency Sensorineural Hearing Loss in Familial Hemophagocytic
      Lymphohistiocytosis Type 5.
PG  - 409-413
LID - 10.1177/0003489418771714 [doi]
AB  - INTRODUCTION: Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal
      recessive disease affecting the cytotoxic pathway. Due to the recent advances in 
      molecular diagnosis, immuno-chemo therapy, and hematopoietic stem cell
      transplantation treatment, FHL survival rates have drastically increased. CASE
      PRESENTATION: Herein, we describe a case of FHL type 5 presenting with
      low-frequency sensorineural hearing loss. Alongside our reported case, 6
      additional patients were identified in the literature. Management and Outcome:
      The progressive nature of FHL disorder may cause bilateral, low-frequency,
      irreversible sensorineural hearing loss. This type of hearing loss should be
      considered among the long-term sequelea presenting with FHL5. DISCUSSION: We
      recommend audiological evaluation at initial FHL5 diagnosis to assess for hearing
      functions. Follow-up in audiology should be part of the long-term monitoring of
      patients with FHL5 as hearing loss could develop long after diagnosis.
FAU - Bezdjian, Aren
AU  - Bezdjian A
AUID- ORCID: https://orcid.org/0000-0002-6512-697X
AD  - 1 McGill Auditory Sciences Laboratory, McGill University Health Centre Research
      Institute, Montreal, Quebec, Canada.
AD  - 2 Department of Experimental Surgery, McGill University, Montreal, Quebec,
      Canada.
FAU - Bruijnzeel, Hanneke
AU  - Bruijnzeel H
AD  - 3 Department of Otorhinolaryngology-Head and Neck Surgery, University Medical
      Center Utrecht, Utrecht, The Netherlands.
AD  - 4 Brain Center Rudolf Magnus, Utrecht, The Netherlands.
FAU - Pagel, Julia
AU  - Pagel J
AD  - 5 Department of Pediatrics, University of Lubeck, Lubeck, Germany.
FAU - Daniel, Sam J
AU  - Daniel SJ
AD  - 1 McGill Auditory Sciences Laboratory, McGill University Health Centre Research
      Institute, Montreal, Quebec, Canada.
AD  - 6 Department of Otolaryngology-Head and Neck Surgery, Montreal Children's
      Hospital, McGill University Health Centre, Montreal, Quebec, Canada.
FAU - Thomeer, Hans G X M
AU  - Thomeer HGXM
AD  - 3 Department of Otorhinolaryngology-Head and Neck Surgery, University Medical
      Center Utrecht, Utrecht, The Netherlands.
AD  - 4 Brain Center Rudolf Magnus, Utrecht, The Netherlands.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Ann Otol Rhinol Laryngol
JT  - The Annals of otology, rhinology, and laryngology
JID - 0407300
RN  - Hemophagocytic Lymphohistiocytosis, Familial, 5
SB  - AIM
SB  - IM
MH  - Adult
MH  - Hearing Loss, Sensorineural/*diagnosis/*etiology
MH  - Humans
MH  - Lymphohistiocytosis, Hemophagocytic/*complications/diagnosis
MH  - Male
OTO - NOTNLM
OT  - STXBP2 protein
OT  - hemophagocytic lymphohistiocytosis
OT  - sensorineural hearing loss
EDAT- 2018/05/20 06:00
MHDA- 2018/05/26 06:00
CRDT- 2018/05/20 06:00
PHST- 2018/05/20 06:00 [entrez]
PHST- 2018/05/20 06:00 [pubmed]
PHST- 2018/05/26 06:00 [medline]
AID - 10.1177/0003489418771714 [doi]
PST - ppublish
SO  - Ann Otol Rhinol Laryngol. 2018 Jun;127(6):409-413. doi: 10.1177/0003489418771714.