IntroductionLeprosy is an infectious disease that remains with a high number of new cases in developing countries. Household contacts have a higher risk for the development of the disease, but the neural impairment in this group is not well elucidated yet. Here, we measured the chance of occurrence of peripheral neural impairment in asymptomatic leprosy household.MethodsContacts who present anti-PGL-I IgM seropositivity, through electroneuromyography (ENMG) evaluation. We recruited 361 seropositive contacts (SPC) from 2017 to 2021, who were subjected to an extensive protocol that included clinical, molecular, and electroneuromyographic evaluations.ResultsOur data revealed a positivity of slit skin smear and skin biopsy qPCR of 35.5% (128/361) and 25.8% (93/361) respectively. The electroneuromyographic evaluation of the SPC showed neural impairment in 23.5% (85/361), with the predominance of a mononeuropathy pattern in 62.3% (53/85). Clinical neural thickening was observed in 17.5% (63/361) of seropositive contacts, but among the individuals with abnormal ENMG, only 25.9% (22/85) presented neural thickening in the clinical exam.DiscussionOurs results corroborates the need to make the approach to asymptomatic contacts in endemic countries more timely. Since leprosy in its early stages can present an indolent and subclinical evolution, serological, molecular, and neurophysiological tools are essential to break the disease transmission chain.

Background: SPS is a disorder consisting of rigidity of axial muscles with painful spasms. More than 80 % of SPS patients have high titer antibodies against glutamic acid decarboxylase (GAD). The use of rituximab for the treatment of SPS is a recent therapeutical approach showing promising results. We present a case of SPS treated with rituximab, showing a good and safe response. Case: A 38-year-old female patient presented with a history of rigidity of abdominal and paravertebral muscles associated with painful spasms in lower back region, increased tonus, lumbar lordosis, frequent falls and severe functional limitation. The anti-GAD antibodies were positive in high titles. Electromyography showed continuous motor activity with normal morphology especially on paravertebral muscles. She had a partial response to baclofen and diazepam, but could not tolerate it because of somnolence, and started the treatment with rituximab. After one year, the baclofen was discontinued and the diazepam reduced. The axial stiffness and spasm frequency improved, including postural instability, without new episodes of falls. Discussion: Rituximab is a monoclonal antibody targeting the CD20 antigens on the surface of mature B lymphocytes. After binding to these antigens, it initiates a cascade of biochemical events leading to apoptosis. Its use has been approved for numerous diseases with promising results. The use of rituximab in the treatment of SPS is a recent approach and good results have been reported. Conclusion: Rituximab may be a promising option in SPS treatment. However, this is a preliminary paper showing partial results requiring long-term follow-up.

Background: The long incubation period of leprosy, its insidious signs and symptoms produce difficulties in its diagnosis and correct clinical classification. The early recognition of neural impairment in leprosy, especially in household contacts with subclinical infection and in the primary neural form, in which the classic clinical and laboratory findings of the disease are, by definition, absent, represents a major challenge in clinical practice. Objectives: Characterize the clinical, molecular, serological and neurophysiological aspects in the early diagnosis of leprosy neuropathy, in household contacts with subclinical infection (positive ELISA anti-PGL1 serology. Design and setting: Longitudinal study carried out at the Clinics Hospital - Federal Univeristy of Uberlândia, a center specialized in Leprosy/Sanitary Dermatology. Methods: 361 seropositive household contacts (CDSP), defined as subclinical infection, were recruited, followed up at a national referral center for leprosy in Brazil, from 2014 to 2016. All individuals underwent a clinical, laboratory and neurophysiological evaluation. Results: 361 CDSP were evaluated. The qPCR analysis was positive in 35.5% (128/361) in the dermal shaving and in 25.8% (85/361) in the skin biopsy of the CDSP. In the electroneuromyographic evaluation, 23.5% (93/361) of the CDSP showed signs of neural involvement, with an average of 2.1 nerves compromised by CDSP. 62.3% (53/93) presented a pattern of mononeuropathy in ENMG. Conclusions: Annual monitoring of CDSP, a prevalence of peripheral neural impairment assessed by ENMG, favoring early treatment.

Background: Peripheral neuropathies in cancer are most often due to neurotoxic chemotherapeutic agents. Approximately 30% of patients receiving neurotoxic chemotherapy (CTX) will suffer from chemotherapy-induced peripheral neuropathy (CIPN). Paclitaxel is an extremely effective chemotherapeutic agent for the treatment of breast, ovarian, and lung cancer. However, paclitaxel-induced peripheral neuropathy occurs in 59-87% of patients who receive this drug. Paclitaxel is an anti-tubulin drug that causes microtubule stabilization, resulting in distal axonal degeneration, secondary demyelination and nerve fiber loss. Case: We present a case of a 68-year-old female patient with history of breast cancer who presented sensorial ataxia and progressive muscle weakness two months after starting CTX with paclitaxel. The physical examination showed tetraparesis with proximal predominance, areflexia, severe hypopalesthesia and postural instability. Electroneuromyography showed the existence of asymmetric demyelinating polyradiculoneuropathy, with conduction block and temporal dispersion in practically all evaluated nerves. The cerebrospinal fluid confirmed the albumin-cytological dissociation. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) was confirmed and patient underwent monthly treatment with methylprednisolone with good response. Discussion: Evidences has implicated neuroinflammation in the development of PIPN. While most CTX drugs do not cross the blood-brain-barrier, they readily penetrate the blood-nerve-barrier and bind to and accumulate in dorsal root ganglia and peripheral axons. CTX can induce neuroinflammation through activation of immune and immune- like glial cells. In fact, immune cells (e.g., macrophages, lymphocytes) and glial cells (e.g., Schwann cells) in the peripheral nervous system play important role in the induction and maintenance of neuropathy. Conclusion: CIDP should be included in the spectrum of CIPN.

Context: Congenital myotonic dystrophy (CMD) is a subtype of type 1 myotonic dystrophy presented in the neonatal period associated with a 16–40% mortality rate. CMD cause significant morbidity and mortality and often require intensive intervention at birth because of hypotonia, respiratory failure and feeding difficulties. It can cause respiratory problems including ineffective cough, recurrent pulmonary infections, orthopnea, dyspnea, poor sleep, apnea and snoring. However, there are few descriptions about diaphragmatic impairment in CMD. We present a baby who had bilateral diaphragmatic eventration associated with CMD. Case report: A term outborn female baby with normal birth weight, delivered by cesarean presenting hypotonia and breathing difficulty since birth. There was no history of meconium aspiration syndrome and aspiration pneumonia. Neurological examination showed a severe hypotonia, eyelid ptosis, oral motor weakness and suction inability, without contractures. Chest X-rays confirmed the bilateral diaphragmatic paralysis. Electroneuromyography confirmed a marked myopathic involvement with frequent myotonic discharges. The mother presented clinical and electrical myotonic phenomena. The baby started mechanical ventilation as was not maintaining saturation on head box oxygen. After surgical repair the baby started on non-invasive respiratory support with improvement of ventilatory conditions. Conclusion: Diaphragmatic eventration is a congenital condition where the muscle maintains its normal costal attachments but is significantly elevated with limited motility. Clinical manifestations vary to life-threatening respiratory distress. Bilateral congenital diaphragmatic eventration is rarer and has more guarded prognosis. Early diaphragmatic plication enhances weaning process and may prevent or minimize the morbidity. Infants with CMD should be monitored for diaphragmatic impairment.