PMID- 29862581
OWN - NLM
STAT- MEDLINE
DCOM- 20190128
LR  - 20190128
IS  - 1464-5491 (Electronic)
IS  - 0742-3071 (Linking)
VI  - 35
IP  - 10
DP  - 2018 Oct
TI  - Peripheral neuropathy in diabetes: it's not always what it looks like.
PG  - 1457-1459
LID - 10.1111/dme.13701 [doi]
AB  - BACKGROUND: Hereditary Neuropathy with liability to Pressure Palsies (HNPP) is an 
      autosomal dominant neuropathy, associated with deletion of the Peripheral Myelin 
      Protein-22 (PMP-22) gene, causing recurrent painless palsies with age of onset 
      between 10 and 30 years old. Only a few cases of Type 2 Diabetes and HNPP have 
      been described and the coexistence of HNPP and Type 1 diabetes has never been 
      reported. CASE REPORT: A 54-year old man with a history of Type 1 diabetes, 
      managed with continuous subcutaneous insulin infusion (CSII), presented with 
      deterioration of long-standing motor and sensory symptoms, previously attributed 
      to golfer's elbow, diabetic neuropathy and spinal degenerative disease. He had 
      multilevel severe spine degenerative changes and L4/L5 and L5/S1 root 
      impingements with a L4/L5 discectomy performed when he was 25 years old. On 
      physical examination he had normal power and distal hypoaesthesia of the digits 
      and plantar aspect of the feet. Investigations revealed normal full blood count, 
      liver and renal function, electrolytes, vitamin B12 and serum folate. He suffered 
      from primary hypothyroidism and thyroid function tests indicated adequate 
      levothyroxine replacement. Nerve conduction studies revealed a generalized 
      demyelinating sensorimotor neuropathy, with more severe involvement of nerves 
      over entrapment sites. Further history that his father suffered from episodes of 
      weakness and numbness was elicited. Genetic analysis revealed one copy of the 
      PMP22 gene at 17p11.2 confirming the diagnosis of HNPP. CONCLUSION: In people 
      with diabetes the evaluation of peripheral neuropathy should include a careful 
      history, a comprehensive physical examination, blood tests and in some cases 
      nerve conduction studies and genetic testing.
CI  - (c) 2018 Diabetes UK.
FAU - Maltese, G
AU  - Maltese G
AUID- ORCID: 0000-0001-6770-3569
AD  - Department of Diabetes and Endocrinology, Guy's and St Thomas' NHS Trust, London, 
      UK.
FAU - Tan, S V
AU  - Tan SV
AD  - Department of Clinical Neurophysiology and Epilepsies, Guy's and St Thomas' NHS 
      Trust, London, UK.
FAU - Bruno, E
AU  - Bruno E
AD  - Department of Clinical Neurophysiology and Epilepsies, Guy's and St Thomas' NHS 
      Trust, London, UK.
FAU - Brackenridge, A
AU  - Brackenridge A
AD  - Department of Diabetes and Endocrinology, Guy's and St Thomas' NHS Trust, London, 
      UK.
FAU - Thomas, S
AU  - Thomas S
AD  - Department of Diabetes and Endocrinology, Guy's and St Thomas' NHS Trust, London, 
      UK.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Diabet Med
JT  - Diabetic medicine : a journal of the British Diabetic Association
JID - 8500858
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - Tomaculous neuropathy
SB  - IM
MH  - Arthrogryposis/*complications/*diagnosis/genetics
MH  - Chromosomes, Human, Pair 17/genetics
MH  - Diabetes Mellitus, Type 1/*complications/genetics
MH  - Diabetic Neuropathies/*diagnosis
MH  - Diagnosis, Differential
MH  - Genetic Testing
MH  - Hereditary Sensory and Motor Neuropathy/*complications/*diagnosis/genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Myelin Proteins/genetics
MH  - Peripheral Nervous System Diseases/*diagnosis/genetics
EDAT- 2018/06/05 06:00
MHDA- 2019/01/29 06:00
CRDT- 2018/06/05 06:00
PHST- 2018/05/31 00:00 [accepted]
PHST- 2018/06/05 06:00 [pubmed]
PHST- 2019/01/29 06:00 [medline]
PHST- 2018/06/05 06:00 [entrez]
AID - 10.1111/dme.13701 [doi]
PST - ppublish
SO  - Diabet Med. 2018 Oct;35(10):1457-1459. doi: 10.1111/dme.13701.