Early infantile form of Krabbe disease: a case report

A 7-month-old female child, born to 2nd degree consanguineous marriage brought with complaints of gross developmental delay. Her examination revealed spasticity in all 4 limbs with brisk deep tendon reflexes with intact primitive reflexes and exaggerated startle reflex. Her MRI brain showed demyelination signs in bilateral thalami, dentate hila, and thickened optic chaisma. Age of presentation, clinico-radiological findings were suggestive of early infantile form of Krabbe disease.

Unusual Case of Head Injury Presented with Brain Gliomas

Seven years female child came with parents who gave us history that 1month back, child during playing had fall on face and lost consciousness which remained for 30 min followed by convulsion. On examination patient was conscious, responds to command, vitals were stable, aphasia was present, pupils were equal and reactive to light bilaterally and horizontal gaze was restricted. There was no facial weakness, Tone increase more in left upper and lower limb .Deep tendon reflexes (DTR) increase in left side. Plantar reflex were extensors. MRI was done which shows intra axial space occupying lesion in brainstem with expansion of brainstem with hydrocephalus. Pt was inoperable and ventriculoperitoneal shunt was done for hydrocephalus. Post operatively patient was kept on assisted ventilation. Conclusion: Unusual presentation of brainstem gliomas as head injury.

The Role of Mutations on HLA Genes in Lambert-Eaton Myasthenic Syndrome

Lambert-Eaton myasthenic syndrome (LEMS) is a rare presynaptic disorder of neuromuscular transmission in which quantal release of acetylcholine (ACh) is impaired, causing a unique set of clinical characteristics, which include proximal muscle weakness, depressed tendon reflexes, posttetanic potentiation, and autonomic changes. [1] The initial presentation can be similar to that of myasthenia gravis (MG), but the progressions of the 2 diseases have some important differences. LEMS disrupts the normally reliable neurotransmission at the neuromuscular junction (NMJ). This disruption is thought to result from an autoantibody-mediated removal of a subset of the P/Q-type Ca2+ channels involved with neurotransmitter release.

Abdominal tendon reflexes in lesions of the pyramidal tract

Abdominal tendon reflexes were studied in Th. Dosuzkov and Fr. Bodlakova (Revue v. Neurologii i psychiatrii, 1928, no. 4). They find the reflex of the rectus abdominis muscles described by Astvatsaturov not only in paraplegia (and hemiplegia) with the lower limbs in the extension position (Erb'a type), but also in the flexion position (Babinsky type).

Diagnosis of tuberculous spondylitis

Diagnosis of tuberculous spondylitis in adults, especially in the absence of kyphosis and a characteristic response to the load of the spine, is often very difficult. Barr (Bulk md., No. 10, 1923) advises in such cases to pay special attention to various "neuralgic" phenomena, unilateral increase in tendon reflexes and Babinsk'oro symptom, as well as to limited rigidity of the spinal muscles.

Juvenile form of alexander disease caused by a previously undescribed mutation in the GFAP gene. a case report

Alexander disease is a form of leukoencephalopathy caused by mutations in the GFAP gene. There are three forms of the disease: infant, juvenile and adult. We present the clinical case of a patient born in 2004 (16 years old) with a debut of the disease at the age of 4 years with complex ticks. further neurological symptoms progressed and appeared atactic gait, intention tremor by performing coordination tests, muscle hypotension, decreased tendon reflexes, nasal voices, and behavior changes.Magnetic resonance imaging revealed changes in the white matter of both frontal lobes. An analysis was made of 59 genes of the panel “Leukodystrophy/leukoencephalopathy” by the method of mass parallel sequencing on the Ion S5. A mutation of the GFAP gene (Nm_002055), 4 exon c.758C>A, p.ALA253Asp in a heterozygous state, not described in Human Gene mutation Database, was detected. The patient was confirmed to have a diagnosis of Alexander disease. According to tractography, a decrease in the number of fibers in the frontal lobes was found.The patient is currently receiving symptomatic treatment.

Mother and son cases of Bickerstaff’s brainstem encephalitis and fisher syndrome with serum anti-GQ1b IgG antibodies: a case report

Background Bickerstaff’s brainstem encephalitis (BBE) and Fisher syndrome (FS) are immune-mediated diseases associated with anti-ganglioside antibodies, specifically the anti-GQ1b IgG antibody. These two diseases potentially lie on a continuous spectrum with Guillain-Barré Syndrome (GBS). There are some reports of family cases of GBS and fewer of FS. However, there are no reports of family cases of BBE and FS. Case presentation We report a familial case of an 18-year-old son who had BBE and his 52-year-old mother diagnosed with FS within 10 days. The son showed impaired consciousness 1 week after presenting with upper respiratory symptoms and was brought to our hospital by his mother. He showed decreased tendon reflexes, limb ataxia, albuminocytologic dissociation in his spinal fluid, and positive serum anti-GQ1b antibodies. Haemophilus influenzae was cultured from his sputum. He was diagnosed with BBE and treated with intravenous immunoglobulin (IVIg) therapy, which led to an improvement in symptoms. The mother presented with upper respiratory symptoms 3 days after her son was hospitalized. Seven days later, she was admitted to the hospital with diplopia due to limited abduction of the left eye. She showed mild ataxia and decreased tendon reflexes. Her blood was positive for anti-GQ1b antibodies. She was diagnosed with FS and treated with IVIg, which also led to symptomatic improvement. Conclusions There are no previous reports of familial cases of BBE and FS; therefore, this valuable case may contribute to the elucidation of the relationship between genetic predisposition and the pathogenesis of BBE and FS.

Hypermagnesemia in a 20-month-old healthy girl caused by the use of a laxative: a case report

Background Hypermagnesemia can be a fatal condition and should be diagnosed early on. Most reports of hypermagnesemia have been of adults with impaired renal function. We describe the case of a pediatric patient without renal dysfunction who developed severe hypermagnesemia. Case presentation A healthy 20-month-old Asian girl presented to our emergency department with episodes of vomiting and a reduced level of consciousness. The neurological examination showed a symmetric decrease in muscle tone, and the deep tendon reflexes were decreased. On admission, her magnesium (Mg) level was 11.0 mg/dL after receiving magnesium oxide for 4 days because of constipation. She was immediately administered calcium gluconate infusion (3.9 mEq), and then was continuously infused with it (0.23 mEq/h) as a Mg antagonist to cardiac side effects. She was kept hydrated with 0.9% sodium chloride to maintain good urine output to excrete the Mg. The level of the serum Mg decreased to 2.4 mg/dL, enabling her to regain consciousness. During 5 years of follow-up, she was neurologically well, without the recurrence of hypermagnesemia. Conclusions Even in the absence of significant renal dysfunction, the prescription of a laxative containing Mg for constipation can result in severe hypermagnesemia. In addition, the symptoms of hypermagnesemia are nonspecific, and early diagnosis is difficult unless it is actively suspected.

Descending paralysis as an atypical presentation of Guillain–Barré Syndrome

We herein report a case of a 55-year-old man with an unusual case of Guillain–Barré Syndrome. Its presentation is usually a progression of symmetric muscle weakness that is ascending from the lower extremities making its way more proximal and accompanied by absent or depressed tendon reflexes. Here, the patient exhibited a rare presentation of Guillain–Barré syndrome, where the weakness was ascending upper extremity and descending lower extremity paralysis. The objective of this clinical case report is to highlight this extremely rare descending paralysis presentation of Guillain–Barré Syndrome.