Acta neurologica Belgica最新文献

Post-traumatic hypopituitarism (PTHP), a condition primarily affecting the anterior pituitary, represents a significant and frequently underdiagnosed consequence of traumatic brain injury (TBI). Its clinical course is dynamic, with deficiencies that can be transient, persistent, or of late onset, profoundly impacting both acute prognosis and long-term cognitive and functional recovery. This review summarizes the complex pathophysiology of PTHP, covering established mechanisms such as mechanical and vascular insults, while also discussing emerging concepts including NLRP3 inflammasome-driven pyroptosis, cellular senescence, and the potential role of pituitary-resident folliculostatellate (FS) cells in the secondary injury cascade. From a clinical perspective, the review emphasizes a longitudinal approach to diagnosis and management that spans the acute to chronic phases, addressing key diagnostic pitfalls and summarizing evidence-based therapeutic strategies. By synthesizing current pathophysiological concepts and clinical practices, this review aims to enhance clinical awareness, bridge the knowledge-translation gap, and provide a resource to help optimize care for this vulnerable patient population.

We report a 21-year-old man, born out of non-consanguineous parentage, who presented with motor predominant developmental delay, intellectual disability, poor scholastic performance, lethargy, easy fatigability, and gradually progressive proximal muscle weakness with striking muscle enlargement since childhood, mimicking muscular dystrophy. Examination revealed coarse facies, macroglossia, dry scaly skin, and symmetrical hypertrophy of limb and shoulder girdle muscles, producing a "Herculean" appearance. Neurological evaluation demonstrated pseudohypertrophy with percussion-induced transient mounding and delayed tendon reflex relaxation. Investigations confirmed severe hypothyroidism with markedly elevated muscle enzymes, while MRI showed diffuse muscle enlargement with myoedema but without fatty infiltration. These clinical and radiological findings established a diagnosis of Kocher-Debré-Semelaigne/Hoffmann's syndrome. Thyroxine replacement resulted in significant improvement. This case underscores hypothyroidism as a potential reversible endocrine myopathy that can masquerade as muscular dystrophy. Recognition of characteristic systemic, neurological, and imaging features prevents unnecessary invasive or genetic testing and highlights the importance of timely hormone replacement therapy.

Background: Cerebral ventriculitis is a severe intraventricular infection with mortality rates of 30-71% despite standard treatment with antibiotics and external ventricular drainage (EVD). Ventricular lavage (VL) has emerged as an adjunctive therapy, but its comparative effectiveness remains uncertain. We aimed to systematically compare outcomes between VL and conservative management in cerebral ventriculitis.

Methods: We conducted a PRISMA-compliant systematic review of PubMed/MEDLINE, Cochrane Library, and ClinicalTrials.gov through January 2025, including 10 studies (n = 322 patients).

Results: VL demonstrated significantly better outcomes across all measured parameters. Mortality was lower with VL (0-25%) versus conservative treatment (23.5-52.9%; p < 0.05 in comparative studies). Hospital stays were 22-50% shorter with VL (20.5-59 vs. 39.7-81 days). Neurological outcomes favored VL, with 66.7-68.8% achieving mRS ≤ 3 versus 23.5-25% in controls. CSF parameters normalized faster with VL (leukocytes: 4 vs. 12 days; protein: 12.9 vs. 27.2 days). VL reduced shunt dependency (56-91% vs. 100%) and infections (2 vs. 7 cases).

Conclusions: Ventricular lavage significantly improves survival, accelerates recovery, and reduces complications compared to conservative management. While current evidence is limited by study heterogeneity, the consistent positive outcomes support consideration of VL for cerebral ventriculitis. Larger randomized trials are needed to optimize protocols and confirm these benefits.