Neurological Presentation of Giant Pituitary Tumour Apoplexy: Case Report and Literature Review of a Rare but Life-Threatening Condition.

Background: Giant pituitary adenomas are benign intracranial tumours with a diameter ≥4 cm. Even if hormonally non-functional, they may still cause local extension, leading to symptoms that include mostly gland dysfunction, mass effects, and, much less frequently, apoplexy due to haemorrhage or infarction. Neurological presentation of giant pituitary tumour apoplexy is even more rare and has not been systematically reviewed. Case Presentation: An 81-year-old woman was admitted to the Emergency Department because of acute onset headache, bilateral visual deficit, and altered consciousness. Computed tomography showed a giant mass lesion (>5.5 cm diameter) expanding upward to the suprasellar cistern, optic chiasm, and third ventricle, over-running the sphenoid sinus, and with lateral invasion of the cavernous sinus. Laboratory investigations revealed central adrenal and hypothyroidism insufficiency, while magnetic resonance imaging confirmed a voluminous suprasellar tumour (~6 cm diameter), with signs of pituitary tumour apoplexy. Neurological manifestations and gland-related deficits improved after hormonal replacement therapy with a high dose of intravenous hydrocortisone, followed by oral hydrocortisone and levo-thyroxine. The patient declined surgical treatment and follow-up visit. Conclusions: Giant pituitary tumour apoplexy is a rare but potentially life-threatening condition. Prompt diagnosis and multidisciplinary management may allow a remarkable clinical improvement, as seen in this case.

Chronic inflammatory demyelinating polyradiculoneuropathy relapse after mexiletine withdrawal in a patient with concomitant myotonia congenita: A case report on a potential treatment option.

INTRODUCTION: we report on the first case of a woman affected by chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and recessive myotonia congenita (MC), treated with mexiletine. We aimed at describing the possible role of mexiletine in CIDP management. PATIENT CONCERNS: A 44-year-old female affected by CIDP and MC, gained beneficial effects for CIDP symptoms (muscle weakness, cramps, and fatigue) and relapses, after mexiletine intake (200 mg twice a day). The patient presented with detrimental effects after mexiletine drop out, with a worsening of CIDP symptoms. INTERVENTIONS: The patient reported a nearly complete remission of muscle stiffness and weakness up to 3 years since mexiletine intake. Then, she developed an allergic reaction with glottis edema, maybe related to mexiletine intake, as per emergency room doctors' evaluation, who suggested withdrawing the drug. OUTCOMES: The patient significantly worsened after the medication drop out concerning both CIDP and MC symptoms. CONCLUSION: This is the first report on the association of CIDP and MC in the same patient. Such diseases may share some clinical symptoms related to a persistent sodium currents increase, which maybe due either to the over-expression of sodium channels following axonal damage due to demyelination or to the chloride channel genes mutations. This is the possible reason why mexiletine maybe promising to treat CIDP symptoms.

Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are the most common adult form of muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. Diagnostic delay in DM2 is due not only to the heterogeneous phenotype and the aspecific onset but also to the unfamiliarity with the disorder by most clinicians. Moreover, the DM2 diagnostic odyssey is complicated by the difficulties to develop an accurate, robust, and cost-effective method for a routine molecular assay. The aim of this review is to underline by challenging approach the diagnostic limits and pitfalls that could results in failure to recognize the presence of DM2 disease. Understanding and preventing delays in DM2 diagnosis may facilitate family planning, improve symptom management in the short term, and facilitate more specific treatment in the long term.

Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls.

BACKGROUND: Myasthenia gravis (MG) is an autoimmune disorder presenting with fluctuating, fatigable muscle weakness. Initial symptoms classically involve ocular and proximal limb muscles. Rarely, MG may onset with unusual features, so it can be misdiagnosed with other neuromuscular diseases. OBJECTIVE: To describe unusual and atypical presentations of MG in a large cohort of patients, considering and discussing diagnostic difficulties and pitfalls. METHODS: We report on 21 out of 508 MG patients, coming to our department in the last 27 years and presenting with atypical or unusual features. The diagnosis was achieved performing a careful clinical examination, a proper neurophysiological assessment, the neostigmine test, the AChR and MuSK antibodies assay and chest CT-scan. RESULTS: Patients with atypical/unusual MG onset were the 4.4% of all MG patients population. We describe seven different clinical categories: asymmetric distal upper limbs weakness, foot drop, isolated triceps brachii weakness and foot drop, post exertional axial weakness with dropped head, acute facial dyplegia, limb-girdle MG and MG with sudden lower limbs weakness and recurrent falls. CONCLUSIONS: Atypical and unusual presentations may increase the risk to misdiagnose or delay MG diagnosis. Isolated limb-girdle presentation is the most frequent atypical form in our series.

Preliminary study on sarcoglycan sub-complex in rat cerebral and cerebellar cortex.

The sarcoglycan sub-complex is a protein system which plays a key role in sarcolemma stabilization during muscle activity. Although numerous studies have been conducted on this system, there are few data about its localization in non-muscular tissues. On this basis we carried out an indirect immunofluorescence study on normal rat cerebral and cerebellar cortex. In particular, we carried out single localization reactions to analyze if these proteins are present in brain and double localization reactions between sarcoglycans and either SMI-32 or GFAP to verify if they are expressed both in neurons and glial cells. We found that all tested sarcoglycans are present both in cerebral and cerebellar cortex and that they are expressed both in neurons and glial cells. The typical staining pattern of all sarcoglycans is represented by "spot-like" fluorescence, with spots of 0.5-2 microm average diameter laid out mainly around the soma of the cells. The main difference about sarcoglycans expression between cerebral and cerebellar cortex is that in the cerebellar cortex the sarcoglycans positivity is detectable only in an area which is likely to correspond to Purkinje cells layer. The presence of sarcoglycans in cerebral and cerebellar cortex and their disposition mainly around the soma of the cells suggest a role of these proteins in cellular signalling and in regulating postsynaptic receptor assembly mainly in axo-somatic synapses.