Pediatric Charcot-Marie-Tooth disease: A case report and diagnostic challenges

Charcot-Marie-Tooth (CMT) disease is a hereditary motor sensory neuropathy affecting about one in 2500 individuals that is characterized by progressive weakness and loss of touch sensation affecting different parts of the body. Despite its significant genetic heterogeneity, CMT is rarely reported in the Indian literature. We report a 10-year-old boy with CMT presented with severe calf pain, bilateral pes cavus deformity, and areflexia. His mother also had similar symptoms, and the diagnosis was confirmed by neuroimaging and nerve conduction studies. This highlights the importance of considering CMT disease in patients with progressive muscle weakness and deformities, especially with a family history of similar symptoms.

Effect of moxibustion on M2 and P2X3 receptors of bladder tissue in rats with neurogenic bladder of detrusor areflexia after lumbar-sacral spinal cord injury / 中国针灸

OBJECTIVE@#To observe the effect of moxibustion at "Guanyuan" (CV 4) and "Shenque" (CV 8) on acetylcholine (Ach), adenosine triphosphate (ATP) and muscarinic-type choline receptor (M2) and purine receptor P2X3 in bladder tissue in the rats with neurogenic bladder (NB) of detrusor areflexia after lumbar-sacral spinal cord injury and explore the underlying mechanism of moxibustion for promoting detrusor contraction.@*METHODS@#Sixty SD rats were randomly divided into a model preparation group (n=45) and a sham-operation group (n=15). In the model preparation group, the modified Hassan Shaker spinal cord transection method was used to prepare the model of NB. In the sham-operation group, the spinal cord transection was not exerted except laminectomy and spinal cord exposure. Among the rats with successfully modeled, 30 rats were selected and divided randomly into a model group and a moxibustion group, with 15 rats in each one. On the 15th day after the operation, moxibustion was applied at "Guanyuan" (CV 4) and "Shenque" (CV 8) in the moxibustion group, 10 min at each acupoint, once a day. The consecutive 7-day treatment was as one course and the intervention for 2 courses was required. Urodynamic test was adopted to evaluate bladder function in rats. Using HE staining, the morphological changes in bladder tissue were observed. The content of Ach and ATP in bladder tissue was measured with biochemical method, and the protein and mRNA expression levels of M2 and P2X3 receptors in bladder tissue were detected with Western blot and real-time fluorescence quantification PCR method.@*RESULTS@#Compared with the sham-operation group, the maximum bladder capacity, leakage point pressure and bladder compliance were increased in the rats of the model group (P<0.05). Compared with the model group, the maximum bladder capacity, the leakage point pressure and bladder compliance were decreased in the rats of the moxibustion group (P<0.05). In the model group, the detrusor fibres were arranged irregularly, bladder epithelial tissues were not tightly connected and cell arrangement was disordered, combined with a large number of vacuolar cells. In the moxibustion group, compared with the model group, the detrusor fibres were arranged regularly, bladder epithelial cells were well distributed and vacuolar cells were reduced. Compared with the sham-operation group, the content of Ach and ATP in bladder tissue was decreased (P<0.05), the protein and mRNA expression levels of M2 and P2X3 receptors were reduced (P<0.05) in the model group. In the moxibustion group, the content of Ach and ATP in bladder tissue was increased (P<0.05) and the protein and mRNA expression levels of M2 and P2X3 receptors were increased (P<0.05) as compared with the model group.@*CONCLUSION@#Moxibustion at "Guanyuan" (CV 4) and "Shenque" (CV 8) may effectively improve bladder function in the rats with NB of detrusor areflexia after lumbar-sacral spinal cord injury and its underlying mechanism is related to promoting the release of Ach and up-regulating the expression of M2 receptor, thereby enhancing the release of ATP and increasing the expression of P2X3 receptor. Eventually, detrusor contraction is improved.

Síndrome de Miller Fisher, un desafío diagnóstico de oftalmoplejía: reporte de un caso / Miller Fisher syndrome, a diagnostic challenge of ophthalmoplegia: a case report

El síndrome de Guillain-Barré (SGB), y sus derivados, entre ellos el síndrome de Miller Fisher (SMF); junto a otras patologías de origen neurológico como la Polineuropatía desmielinizante inflamatoria crónica (CIDP), las polineuropatías de causa metabólica, miastenia gravis, esclerosis lateral amiotrófica (ELA), síndrome de Lambert-Eaton, encefalopatía de Wernicke entre otras; presentan signos y síntomas neurológicos de presentación común. De este modo, la importancia del examen neurológico acabado; y los exámenes de apoyo diagnóstico como: laboratorio -destacando el líquido cefalorraquídeo (LCR)-, electromiografía, y toma de imágenes, son cruciales para esclarecer el diagnóstico. Así, es posible ofrecer un tratamiento de forma precoz, basado en la evidencia, y con el objetivo de disminuir la letalidad de la enfermedad. En el presente texto se plasma un subgrupo de patología de SGB, el SMF, el cual posee una incidencia significativamente baja, una clínica característica, y un pronóstico bastante ominoso sin un tratamiento adecuado. En el presente texto se plasma el reporte de un caso abordado en el Hospital San Pablo de Coquimbo, Chile.

Guillain-Barré syndrome (GBS) and its derivatives, including Miller Fisher syndrome (MFS), along others pathologies of neurological origin such as chronic inflammatory demyelinating polyneuropathy (CIDP), metabolic polyneuropathies, myasthenia gravis, amyotrophic lateral sclerosis (ALS), Lambert-Eaton syndrome, Wernicke's encephalopathy and well as others, have common neurological signs and symptoms. In this way, the importance of a thorough neurological examination, and supporting diagnostic tests such as: laboratory, -cerebrospinal fluid (CSF)-electromyography, and imaging, are crucial to clarify the diagnosis. Thus, it is possible to offer early, evidence-based treatment with an aim of reducing the disease's lethality. In the text below we present a subgroup of GBS pathology, MFS, which has a significantly low incidence, a characteristic clinical picture, and a rather ominous prognosis without adequate treatment. In the following text/paper is shown the report of a case approached in San Pablo Hospital, from Coquimbo, Chile.

Ross syndrome: a case report

Ross syndrome is a rare partial dysautonomic syndrome of unknown aetiology, characterized by segmental hypo/ anhidrosis associated with Holmes-Adie syndrome (tonic pupil and hypo/areflexia). The hypohydrosis or anhydrosis is patchy initially, later it becomes segmental or diffuse. This is due to affection of postganglionic cholinergic parasympathetic and sympathetic fibers involvement. There are a very few cases (approximately 50) have been reported in the literature since its original description. Author report a 22 years old male with classical features of Ross syndrome.

Síndrome de Miller Fisher en un niño de 12 años / Miller Fisher Syndrome in a 12 year old boy

El Síndrome de Miller Fisher (SMF) es una variante del Síndrome de Guillain Barré (SGB), caracterizado por la tríada clínica de oftalmoplejía, ataxia y areflexia. Se presenta el caso de un niño de 12 años de edad, examinado con un tiempo de enfermedad de 4 días y con una variedad de síntomas que incluían ptosis palpebral, somnolencia, marcha tambaleante y debilidad muscular, asociados a antecedente de infección respiratoria de vías altas. El examen clínico demostró paresia del III, IV, y VI nervios craneales de ambos ojos, arreflexia y debilidad distal en extremidades. Se instaló tratamiento con Inmunoglobulina intravenosa que condujo a una evolución clínica satisfactoria.

The Miller Fisher Syndrome (MFS) is a variant of the Guillain Barre Syndrome (GBS), characterized by the clinical trial of ophthalmoplegia, ataxia and areflexia. The case of a 12 year old boy is examined with a 4-day long history characterized by symptoms such as palpebral ptosis, somnolence, ataxia and muscle weakness, associated with a history of upper respiratory infection. Clinical examination showed paresis of III, IV, and VI cranial nerves of both eyes, areflexia, and distal weakness in the extremities. Treatment with intravenous immunoglobulin was established, leading to a satisfactory clinical evolution.

Pudendal Somatosensory Evoked Potentials and Bulbocavernosus Reflex according to the Type of Neurogenic Bladder

OBJECTIVE: This study was purposed to reveal the differences of the findings of pudendal somatosensory evoked potential (PSEP) and electrophysiological bulbocavernosus reflex (EBCR) according to the type of neurogenic bladder. METHOD: The subjects were 65 patients with neurogenic bladder. The causes of neurogenic bladder were consist of seven brain lesions; 39 spinal cord injuries; 15 cauda equina syndromes; and four peripheral polyneuropathies. PSEP and EBCR were done. RESULTS: Of the patients with hyperreflexic bladder (43.1%), PSEP latency was normal in 21.4%, delayed in 21.4%, and not obtainable in 57.2%. Of the patients with areflexic bladder (56.9%), PSEP latency was normal in 24.3%, delayed in 21.6%, and not obtainable in 54.1%. Of the patients with hyperreflexic bladder, EBCR latency was normal in 82.1%, delayed in 14.3%, and not obtainable in 3.6%. Of the patients with areflexic bladder, EBCR latency was normal in 16.2%, delayed in 37.8%, and not obtainable in 46.0% (p<0.01). CONCLUSION: There was significant correlation between EBCR and type of neurogenic bladder, but not with PSEP. These results seem to be reflected from the neuro-anatomical lesion of the neurogenic bladder.

Miller Fisher Syndrome

Miller Fisher syndrome is characterized by acute external ophthalmoplegia, ataxia and areflexia in the abscence of significant motor or sensory deficit in the limbs and usually results in a complete recovery. Most cases have anteceding events like upper respiratory infection or other viral infections. Diagnosis of Miller fisher syndrome can be made with compatible clinical history taking, cardinal symptoms and normal findings of CT or MRI. The prognosis of Miller Fisher syndrome is favorable contrary to other malignant tumors or Guillain-Barre syndrome which sometimes cause a respiratory paralysis. The locations of its anatomic lesion and pathogenesis are nor yet discovered. From 1991 to 1995, we have experienced 11 cases of Miller Fisher syndrome. Thereby we have analyzed anteceding events, cardinal symptoms along with other associated symptoms, electrophysiological studies, cerebrospinal fluid test and its treatment and prognosis. The purpose of this article is that a better understanding of Miller Fisher syndrome can lead us to differenciate with other disorders causing external ophthalmoplegia.

Occurrence of A Miller Fisher Syndrome After Insect Bite

Miller Fisher syndrome is characterized by ophthalmoplegia, ataxia and areflexia and usually develops after respiratory tract viral infection. Other various events that precede neurologic symptoms are GI tract infection, vaccination, digitalis intoxication, insect bite, and delivery. The clinical course is usually benign with complete recovery. Miller Fisher syndrome is rare and occurred after insect bite is even more rare. The authors experienced a case of Miller Fisher syndrome in 7-year-old female who had the sudden onset of ophthalmoplegia, ataxia and areflexia. These symptomes developed after insect bite.