Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review.

Charcot- Marie- Tooth (CMT) disease includes a group of clinically and genetically heterogeneous neuropathic disorders with an estimated frequency of 1 on 2.500 individuals. CMTs are differently classified according to the age of onset, type of inheritance, and type of inheritance plus clinical features. For these disorders, more than 100 genes have been implicated as causal factors, with mutations in the PMP22 being one of the most common. The demyelinating type (CMT1) affects more than 30% of the CMTs patients and manifests with motor and sensory dysfunctions of the peripheral nervous system mainly starting with slow progressive weakness of the lower extremities. We report here a 12 year- old boy presenting with typical features of CMT1 type, hearing impairment, and inguinal hernia who at the next-generation sequence analysis displayed a concomitant presence of two variants: the c.233 C>T p.Ser 78Leu of the MPZ gene (NM_000530.6) characterized as pathogenetic and the c.1403 G>A p.Arg 468His of the MFN2 gene (NM_014874.3) characterized as VUS. Concomitant variant mutations in CMTs have been uncommonly reported. The role of these gene mutations on the clinical expression and a literature review on this topic is discussed.

The clinical spectrum of anti-MOG associated acquired demyelinating disorders: Three case-reports.

BACKGROUND: The spectrum of differential diagnosis of acquired demyelinating disorders of the central nervous system has been recently broadened. There is now growing evidence that supports anti-myelin oligodendrocyte antibodies associated demyelination as a distinct disease entity, with some clinical characteristics that somehow overlap those of Multiple Sclerosis (MS) and anti-AQP4+ Neuromyelitis Optica Spectrum Disorders (AQP4+NMOSD) but different pathogenesis and treatment strategies. SUMMARY: We hereby present 3 cases of anti-MOG+ patients with different disease courses - ranging from mild to severe - all presenting with Optic neuritis (ON) at the onset. Optic neuritis (ON) is a common manifestation of different central nervous system (CNS) inflammatory disorders and can represent the first clinical event of MS and NMOSD. ON is also the most common presentation of antiMOG demyelinating disorders, followed by - and sometimes associated with - myelitis, most commonly extended over more than 2 spinal cord segments and defined as longitudinally extended transverse myelitis (LETM). All the three patients tested negative for oligoclonal bands in CSF and anti-AQP4 Ab in serum, had a relapsing disease course characterized by prominent involvement of the optic nerve and spinal cord, with good recovery after treatment with high-dose corticosteroids. However, they had a different disease course at follow-up and underwent different treatment approaches. CONCLUSIONS: Since anti-MOG+ patients can have a multiphasic disease course and accumulate disability over time, a high degree of suspicion and early diagnosis are of critical importance for treatment decision-making in clinical practice. AIM: The aim of this case report is to enhance focus on an emerging disease spectrum among acquired CNS demyelinating disorders.

[The role of computed tomography after functional surgery on the paranasal sinuses. Normal findings and an assessment of the surgical failures]. / Ruolo della tomografia computerizzata dopo chirurgia funzionale dei seni paranasali. Rilievi normali e valutazione degli insuccessi chirurgici.

INTRODUCTION: Functional endoscopic sinus surgery has become the technique of choice to treat benign or inflammatory diseases of paranasal sinuses resistant to medical therapy. The goal of this type of surgery is to open the obstructed sinus ostia and restore normal aeration and mucociliary clearance. Messerklinger's is the most widely used technique. PURPOSE: We investigated the role of CT after functional endoscopic sinus surgery and describe CT findings of postoperative anatomical changes together with frequent complications and surgical failures. METHODS AND MATERIALS: Twenty-seven patients with relapsing symptoms were examined with CT of paranasal sinuses 8-32 weeks after functional endoscopic sinus surgery. In all cases both preoperative CT and surgical reports were available: CT and surgical results were compared. RESULTS: In 21/27 patients nasosinusal changes were demonstrated with CT. Recurrent disease secondary to inflammation and/or fibrosis was observed in 14 cases. Residual disease was seen in 5 patients. A major orbital complication was found in 1 patient with diplopia. One patient exhibited a large interruption of cribriform plate with CSF fistula. CONCLUSION: CT permitted an accurate assessment of extension and results of functional endoscopic sinus surgery. CT is indicated in the postoperative study of the patients who a) present symptoms of cerebral and ocular complications (early after functional endoscopic sinus surgery); and b) do not respond to medical treatments 8-32 weeks after unsuccessful functional endoscopic sinus surgery. In these patients CT can demonstrate recurrent and/or residual nasosinusal disease and bony defects unintentionally caused by the surgeon during the procedure.