PMID- 35658923
OWN - NLM
STAT- MEDLINE
DCOM- 20220608
LR  - 20230916
IS  - 1824-7288 (Electronic)
IS  - 1720-8424 (Linking)
VI  - 48
IP  - 1
DP  - 2022 Jun 3
TI  - Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial 
      phenotypic variability and early childhood refusal to walk as the presenting 
      symptom.
PG  - 84
LID - 10.1186/s13052-022-01280-z [doi]
LID - 84
AB  - BACKGROUND: Limping and/or refusal to walk is a common complaint in the setting 
      of the pediatric department, with a widely diverse differential diagnosis. An 
      unusual etiology, is that of a hereditary neuropathy. Hereditary neuropathy with 
      liability to pressure palsies (HNPP) is a recurrent, episodic demyelinating 
      neuropathy, most commonly caused by a 17p11.2 chromosomal deletion encompassing 
      the PMP22 gene. METHODS: We pursued chromosomal microarray analysis (CMA) in 
      multiple affected individuals of a single extended family, manifesting a range of 
      phenotypic features consistent with HNPP. RESULTS: A 4.5 years-old boy presented 
      for in-patient evaluation due to refusal to walk. Initial investigations 
      including spine MRI and bone scan failed to yield a conclusive diagnosis. 
      Following family history, which implied an autosomal dominant mode of 
      inheritance, CMA was pursued and confirmed a 17p11.2 deletion in the proband 
      consistent with HNPP. Importantly, following this diagnosis, four additional 
      affected family members were demonstrated to harbor the deletion. Their variable 
      phenotypic features, ranging from a prenatal diagnosis of a 6 months-old sibling, 
      to recurrent paresthesias manifesting in the fourth decade of life, are 
      discussed. CONCLUSIONS: Our experience with the family reported herein 
      demonstrates how a thorough anamnesis can lead to a rare genetic etiology with a 
      favorable prognosis and prevent unnecessary investigations, and underscores HNPP 
      as an uncommon diagnostic possibility in the limping child.
CI  - (c) 2022. The Author(s).
FAU - Karklinsky, Shani
AU  - Karklinsky S
AD  - Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba 
      Medical Center, 52621, Tel-Hashomer, Israel.
AD  - Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
FAU - Kugler, Shir
AU  - Kugler S
AD  - Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba 
      Medical Center, 52621, Tel-Hashomer, Israel.
AD  - Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
FAU - Bar-Yosef, Omer
AU  - Bar-Yosef O
AD  - Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
AD  - Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba 
      Medical Center, Tel-Hashomer, Israel.
AD  - Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel.
FAU - Nissenkorn, Andreea
AU  - Nissenkorn A
AD  - Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
AD  - Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba 
      Medical Center, Tel-Hashomer, Israel.
AD  - Center for Rare Disorders-Magen, Wolfson Medical Center, Holon, Israel.
FAU - Grossman-Jonish, Anat
AU  - Grossman-Jonish A
AD  - Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
AD  - The Danek Gertner Institute of Human Genetics, Sheba Medical Center, 
      Tel-Hashomer, Israel.
FAU - Tirosh, Irit
AU  - Tirosh I
AD  - Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba 
      Medical Center, 52621, Tel-Hashomer, Israel.
AD  - Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
AD  - Pediatric Rheumatology Unit, Edmond and Lily Safra Children's Hospital, Sheba 
      Medical Center, Tel-Hashomer, Israel.
FAU - Vivante, Asaf
AU  - Vivante A
AD  - Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba 
      Medical Center, 52621, Tel-Hashomer, Israel.
AD  - Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
AD  - Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel.
AD  - Pediatric Nephrology Unit, Edmond and Lily Safra Children's Hospital, Sheba 
      Medical Center, Tel-Hashomer, Israel.
FAU - Pode-Shakked, Ben
AU  - Pode-Shakked B
AUID- ORCID: 0000-0001-6017-9629
AD  - Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba 
      Medical Center, 52621, Tel-Hashomer, Israel. ben_pode@hotmail.com.
AD  - Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. 
      ben_pode@hotmail.com.
AD  - Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel. 
      ben_pode@hotmail.com.
LA  - eng
PT  - Journal Article
DEP - 20220603
PL  - England
TA  - Ital J Pediatr
JT  - Italian journal of pediatrics
JID - 101510759
RN  - 0 (Myelin Proteins)
RN  - Tomaculous neuropathy
SB  - IM
MH  - *Arthrogryposis/diagnosis/genetics
MH  - Biological Variation, Population
MH  - Child
MH  - Child, Preschool
MH  - *Hereditary Sensory and Motor Neuropathy/diagnosis/genetics
MH  - Humans
MH  - Infant
MH  - Male
MH  - Myelin Proteins/genetics
PMC - PMC9164845
OTO - NOTNLM
OT  - Hereditary neuropathy with liability to pressure palsies (HNPP)
OT  - PMP22
OT  - The limping child
COIS- The authors declare no competing interests.
EDAT- 2022/06/07 06:00
MHDA- 2022/06/09 06:00
PMCR- 2022/06/03
CRDT- 2022/06/06 10:18
PHST- 2021/08/16 00:00 [received]
PHST- 2022/05/13 00:00 [accepted]
PHST- 2022/06/06 10:18 [entrez]
PHST- 2022/06/07 06:00 [pubmed]
PHST- 2022/06/09 06:00 [medline]
PHST- 2022/06/03 00:00 [pmc-release]
AID - 10.1186/s13052-022-01280-z [pii]
AID - 1280 [pii]
AID - 10.1186/s13052-022-01280-z [doi]
PST - epublish
SO  - Ital J Pediatr. 2022 Jun 3;48(1):84. doi: 10.1186/s13052-022-01280-z.