Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive inherited demyelinating neuropathy caused by an FYVE, RhoGEF, and a PH domain-containing protein 4 (FGD4) gene mutation. CMT4H is characterized by an early onset, slow progression, scoliosis, distal muscle atrophy, and foot deformities. We herein present sibling cases of CMT4H with a homozygous mutation in the FGD4 gene. Both patients exhibited cauda equina thickening on magnetic resonance imaging, which had not been reported among the previous CMT4H cases. This is the first report of CMT4H with a homozygous FGD4 c.1730G>A (p.Arg577Gln) mutation showing mild progression and cauda equina thickening.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758460 | PMC |
| http://dx.doi.org/10.2169/internalmedicine.7247-21 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Midline-Sparing Approach for En Bloc Resection of a Ventral Cauda Equina Schwannoma: A 2-Dimensional Operative Video.
Oper Neurosurg (Hagerstown)
January 2025
Department of Neurosurgery, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Misdiagnosed hamstring strain injury: a case report of early cauda equina syndrome.
J Can Chiropr Assoc
December 2024
Division of Neurosurgery, Université de Montréal.
Objective: This case report discusses the diagnostic challenges associated with the early identification of cauda equina syndrome in a 25-year-old patient without lumbar spinal pain. It introduces a new classification scheme related to a more effective diagnosis.
Clinical Features: The patient experienced pain in the right hamstring, diagnosed as a pulled muscle.
Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis.
Biomedicines
January 2025
Second Department of Internal Medicine, Division of Nephrology, Kansai Medical University, Hirakata 573-1010, Japan.
: Charcot-Marie-Tooth (CMT) disease is an inherited peripheral neuropathy primarily involving motor and sensory neurons. Mutations in INF2, an actin assembly factor, cause two diseases: peripheral neuropathy CMT-DIE (MIM614455) and/or focal segmental glomerulosclerosis (FSGS). These two phenotypes arise from the progressive degeneration affecting podocytes and Schwann cells.
View Article and Find Full Text PDFSyringomyelia with Central Canal Enlargement Caused by Postoperative Inflammation after Surgery for Intradural Lumbar Disc Herniation.
NMC Case Rep J
December 2024
Department of Orthopedic Surgery, NHO Osaka Minami Medical Center, Kawachinagano, Osaka, Japan.
Intradural lumbar disc herniation (ILDH) is a very rare condition, with cerebrospinal fluid (CSF) leakage as a postoperative complication. The central canal of the conus medullaris was reported to communicate with the subarachnoid space through a caudal aperture; however, this aperture has never been observed in vivo. Herein, we report a case of L1/2 ILDH with postoperative spinal adhesive arachnoiditis and syringomyelia in which the communication considered to be a caudal aperture was detected.
View Article and Find Full Text PDFIs the Intradural Disc Really Intradural?
Cureus
December 2024
Neurosurgery, Al-Azhar University, Giza, EGY.
Intradural disc herniation (IDDH) is a rare condition, accounting for less than 0.5% of herniated disc cases, primarily affecting the lumbar region and often presenting with severe nerve compression or cauda equina syndrome. This paper presents the case of a 60-year-old female with a history of hypertension, dyslipidemia, stroke, and hypothyroidism, who arrived with severe lower back pain, lower limb weakness, and urinary retention.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!