Over a period of 2 months, a 60-year-old man, a chicken breeder, experienced low back pain, lower limb weakness predominant on the right side, and urinary difficulties, leading progressively to a flaccid paraplegia with sphincter impairment. Concomitant poor cognitive performances were noted. MRI showed enlargement of the conus terminalis, with a low-intensity signal on T1-weighted images, high-intensity signal on T2-weighted images, and areas of intramedullar contrast enhancement. A biopsy of the lesion showed macrophages containing yeast cells, with PAS and Grocott staining aspects compatible with the presence of Histoplasma capsulatum (Hc). A brain MRI showed multiple localizations in the brain stem and in both hemispheres with associated edema. Disseminated histoplasmosis was confirmed by a biopsy of a sub-maxillary ganglion demonstrating a necrotic tuberculoid lymphadenitis containing yeast cells resembling Hc. Immune tests disclosed the presence of HTLV1 anti-bodies without immunodeficiency nor HIV co-infection. An anti-micotic treatment was started 2 weeks after surgery, with intra-venous amphotericin B, for 21 days, followed by itraconazole, orally for 90 days. Cognitive functions improved significantly in 5 weeks while paraplegia and sphincter impairment remained unchanged. Seven months later, cerebral MR aspects dramatically improved while the conus medullaris lesion diminished, and the edematous component disappeared in all areas. Even though histoplasmosis is endemic in our region, CNS localization is rare, generally in disseminated forms associated with immunodeficiency. Brain granulomas are well-known, but spinal cord histoplasmomas are exceptional: only four cases have been evaluated by MRI. Unlike our case, spinal cord forms generally improve, due to surgery associated with antifungus medication, or sometimes due to specific medical treatment alone but with sufficient dosage.
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Ann Clin Transl Neurol
January 2025
Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Biallelic loss-of-function variants in AP4S1 cause childhood-onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same AP4S1 variant (NM_007077.
View Article and Find Full Text PDFEur J Neurol
January 2025
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
Pan Afr Med J
December 2024
Infectious Diseases Department, Ibn Al Jazzar University Hospital, Kairouan, Tunisia.
Pneumococcal meningitis is the most severe bacterial meningitis rarely complicated by acute myelitis. We report a case of a 54-year-old female who presented with pneumococcal meningoencephalitis. After eight days of hospitalization, the patient presented a sudden onset of bilateral lower leg weakness and bladder and bowel sphincter dysfunction.
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January 2025
Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (APHP), University Hospital Pitié-Salpêtrière, Paris, France.
Front Med (Lausanne)
November 2024
Department of Sports Rehabilitation, Beijing Xiaotangshan Hospital, Beijing, China.
Hepatic myelopathy (HM) is a rare complication of end-stage chronic liver disease, primarily presenting as symmetrical lower limb weakness that progresses to spastic paralysis without sensory or sphincter dysfunction. We report a case of decompensated cirrhosis associated with hepatitis B virus and HM. The patient showed significant recovery after liver transplantation (LT) and comprehensive rehabilitation training.
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