Comprehensive and integrated management of basilar impression, platybasia and cranio-vertebral junction abnormality- a case report.

AIM: To report a case of anomalous development of base of skull (platybasia, Basilar invagination and C1-C2 vertebral fusion); and emphasize nonsurgical management in inoperable cases that can improve quality of life of the patient. MATERIALS AND METHODS: The case is reported as a descriptive study of a 17-year-old female who presented to a rural teaching tertiary care hospital in Wardha, Maharashtra, India; with chief complaints of weakness in all four limbs since 10 years of age. RESULT AND CONCLUSION: Platybasia is a developmental defect of the occipital bone and upper cervical spine resulting from anomalous development. The mechanism of such anomalies is not known; however, the most accepted theory includes abnormal basi-occiput development. The pressure effects may present signs similar to progressive spastic paralysis, cerebellar symptoms, or cranial nerve palsy, in addition to musculoskeletal symptoms. It is, therefore, crucial for physicians and radiologists to be familiar with clinical manifestations and radiological findings. In the following case of a patient with base of skull anomalies, surgical intervention in view of progressive worsening of motor symptoms was advised, however, the guardians declined the same due to high risk involved. Due to financial constraints, genetic studies were unaffordable, and a lack of awareness regarding the disease hampered the guardians from making a decision on the definite management of the disease. Besides radical neurosurgery, intensive physiotherapy can prove vital in significantly improving the quality of life for the patient.

Spinal Meningiomas.

Spinal meningiomas are relatively rare, but account for a significant proportion of primary spinal tumors in adults. These meningiomas can be found anywhere along the spinal column and their diagnosis is often delayed due to their slow growth and the lack of significant neurological symptoms until they reach a critical size, at which point signs of spinal cord or nerve root compression generally manifest and progress. If left untreated, spinal meningiomas can cause severe neurological deficits including rendering patients paraplegic or tetraplegic. In this chapter we will review the clinical features of spinal meningiomas, their surgical management, and detail molecular features that differentiate them from intracranial meningiomas.

Acute Flaccid Quadriparesis in a Recovering COVID-19 Patient: A Clinical Dilemma.

How to cite this article: Sabharwal P, Chakraborty S, Tyagi N, Kumar A. Acute Flaccid Quadriparesis in a Recovering COVID-19 Patient: A Clinical Dilemma. Indian J Crit Care Med 2021;25(2):238-239.

Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.

Iron-sulfur cluster assembly 2 (ISCA2)-related multiple mitochondrial dysfunction syndrome 4 (MMDS4) is a fatal autosomal recessive mitochondrial leukoencephalopathy. The disease typically manifests with rapid neurodevelopmental deterioration during the first months of life leading to a vegetative state and early death. MRI demonstrates a demyelinating leukodystrophy. We describe an eleven-year-old boy with a milder phenotype of ISCA2 related disorder manifesting as: normal early development, acute infantile neurologic deterioration leading to stable spastic quadriparesis, optic atrophy and mild cognitive impairment. The first MRI demonstrated a diffuse demyelinating leukodystrophy. A sequential MRI revealed white matter rarefaction with well-delineated cysts. The patient harbors two novel bi-allelic variants (p.Ala2Asp and p.Pro138Arg) in ISCA2 inherited from heterozygous carrier parents. This report expands the clinical spectrum of ISCA2-related disorders to include a milder phenotype with a longer life span and better psychomotor function and cavitating leukodystrophy on MRI. We discuss the possible genetic explanation for the different presentation.

Atlas assimilation: spectrum of associated radiographic abnormalities, clinical presentation, and management in children below 10 years.

OBJECTIVE: To analyze the varied presentation and management of atlas assimilation with associated radiographic abnormalities in children in the MRI era METHODS: Database analysis of 313 children (less than 10 years) RESULTS: Atlas assimilation (AA) was associated with atlantoaxial dislocation in 12, abnormal skull base and Chiari I abnormality in 42, C2-C3 segmentation failure and instability and Chiari I abnormality in 74, and condylar hypoplasia and basilar invagination in 74. Proatlas segmentation failures were 54, atlantoaxial rotary dislocation in 26 with Goldenhar's syndrome, abnormal C1 atlas posterior arch causing dynamic compression of cord in 31 children. Vascular compromise was documented in 26 children. The study encompassed ages 6 months to 10 years. Cranial nerves commonly affected were glossopharyngeal, vagal, and hypoglossal nerves. Children below 2 years presented with torticollis, failure to thrive, difficulty swallowing, and motor and sensory deficits. Craniovertebral junction instability associated with AA was treated with custom-built craniocervical orthosis below 5 years. Closed reduction of instability or basilar invagination was attempted with neuromuscular blockade under anesthesia and traction above age 5 years. Successful reduction was treated with dorsal foramen magnum and atlas decompression with occiput-C2 dorsal fusion using rib grafts below the age of 5 years and instrumentation after that. Follow-up was 2 to 32 years. Neurological recovery was seen in nearly all patients. CONCLUSIONS: Children with atlas assimilation and associated abnormalities may be symptomatic in early childhood. The treatment depends on the age and tailored to the abnormalities present. The long-term results have been successful.

Acute presentation of Chiari 1 malformation in children.

PURPOSE: To review the literature about the acute presentation of Chiari 1 malformation in children, with a focus on acute cervical cord syndromes with impairment of the cortico-spinal tract. To analyze the possible precipitating factors and the pathophysiology of the acute onset. METHOD: Illustrative case presentation with literature review. RESULTS: The literature includes just a few dozens of children with acute presentation of Chiari 1 malformation. The more frequent presentations consist of oropharyngeal dysfunction, cranial nerve impairment, high intracranial pressure, peripheral motor deficit. Acute impairment of cervical long tracts is very rare and we could find only 16 previously reported cases of cervical cord impairment with quadriparesis or hemiparesis. CONCLUSIONS: Nowadays, a lot of asymptomatic Chiari 1 malformations are frequently observed owing to the wide diffusion of magnetic resonance imaging. This raised the question about the management of these patients. Despite severe and even lethal manifestations being reported in previously asymptomatic patients, the absolute rarity of acute deterioration does not justify prophylactic surgery. The diagnosis of Chiari malformation may be initially difficult in patients with isolated, acute, and unusual presentations but physicians should bear in mind its possibility, because prompt cranio-cervical decompression may be decisive.

Thyrotoxic Hypokalemic Periodic Paralysis.

Hypokalemia is a serious and life-threatening clinical condition. We present a case of a 45-year-old male, with known hyperthyroidism presenting with profound tremor, irritability, quadriparesis, and labored breathing since morning, on the day of admission. Arterial blood gas analysis showed severe hypokalemia. Patient's vital was stabilized and patient's oxygen saturation was maintained on oxygen inhalation. Intravenous potassium chloride infusion was administered with regular monitoring of vitals and electrolytes. Patient's symptoms improved. Thyroid function testing showed high free T3 (tri-iodothyronine) and free T4 (thyroxine) with low thyroid-stimulating hormone concentration in the serum, indicating thyrotoxic hypokalemic periodic paralysis. Treatment with antithyroid drug carbimazole resulted in an improvement during the follow-up visit. Hypokalemia is believed to be a consequence of a massive shift due to increased sodium-potassium-adenosine triphosphatase (Na+K+ATPase) pump activity in the presence of elevated thyroid hormones.

[Critical illness polyneuropathy and myopathy as neurological complications of sepsis]. / Critical-illness-Polyneuropathie und -Myopathie als neurologische Komplikationen der Sepsis.

Intensive care unit acquired weakness (ICUAW) is a frequent and severe complication of intensive care management. Within ICUAW critical illness polyneuropathy (CIP) and myopathy (CIM) can be differentiated. The major symptom of ICUAW is progressive quadriparesis, which makes weaning from the respirator more difficult, can appear early after admission to an ICU and can often be detected several months after discharge from the ICU. The pathophysiology of ICUAW is multifactorial and complex. Potential therapeutic approaches are the early and sufficient therapy of mulitorgan dysfunction, optimal control of glucose levels as well as early and intensive physiotherapy. This review article discusses the data on incidence, pathophysiology, diagnostic approaches and prognosis of ICUAW.

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

Two unrelated patients, presenting with significant global developmental delay, severe progressive microcephaly, seizures, spasticity and thin corpus callosum (CC) underwent trio whole-exome sequencing. No candidate variant was found in any known genes related to the phenotype. However, crossing the data of the patients illustrated that they both manifested pathogenic variants in the SLC1A4 gene which codes the ASCT1 transporter of serine and other neutral amino acids. The Ashkenazi patient is homozygous for a deleterious missense c.766G>A, p.(E256K) mutation whereas the Ashkenazi-Iraqi patient is compound heterozygous for this mutation and a nonsense c.945delTT, p.(Leu315Hisfs*42) mutation. Structural prediction demonstrates truncation of significant portion of the protein by the nonsense mutation and speculates functional disruption by the missense mutation. Both mutations are extremely rare in general population databases, however, the missense mutation was found in heterozygous mode in 1:100 Jewish Ashkenazi controls suggesting a higher carrier rate among Ashkenazi Jews. We conclude that SLC1A4 is the disease causing gene of a novel neurologic disorder manifesting with significant intellectual disability, severe postnatal microcephaly, spasticity and thin CC. The role of SLC1A4 in the serine transport from astrocytes to neurons suggests a possible pathomechanism for this disease and implies a potential therapeutic approach.

Hyperkalemia: A rare cause of acute flaccid quadriparesis.

Acute flaccid quadriparesis secondary to hyperkalemia is a very rare and serious but reversible medical emergency. We present a case of a 73-year-old female who was admitted with rapidly progressive ascending paraparesis progressing to quadriparesis in about 10 h due to hyperkalemia. Patient was treated with antihyperkalemic measures. Her power improved dramatically as potassium levels normalized and she had an uneventful recovery.

Anesthetic challenges in a patient with Hirayama disease with quadriparesis and autonomic dysfunction undergoing cervical spine surgery.

Hirayama disease is a rare neurological disorder, characterized by muscular atrophy of the distal upper extremities. The occurrence of spastic quadriparesis and autonomic dysfunction is rarely reported and has important perioperative considerations during cervical spine surgery for the treatment of this disorder. The role of the anesthesiologist is vital in the thorough assessment of the patient for the involvement of the pyramidal tract, autonomic dysfunction, gastroparesis, hyperreactive airway disease, and documentation of neurological deficits. Intraoperative concerns include safe manipulation of the airway during mask ventilation and the use of a flexible fibreoptic bronchoscope during endotracheal intubation to prevent neck flexion. It is also essential to avoid drugs, leading to histamine release. The use of multimodal monitoring including bispectral index and neuromuscular monitoring is crucial to prevent delayed recovery. Anticipation and management of exaggerated hypotension in response to anesthetic induction agents and prone position is the key to a successful outcome in patients with autonomic dysfunction.

Hypokalemic Quadriparesis Associated With Renal Glycosuria in Dengue Fever: A Rare Presentation.

Dengue fever is a viral hemorrhagic fever mainly transmitted by Aedes mosquitoes and is especially prevalent in equatorial regions. The presentation of dengue fever can range from mild symptoms, such as fever and body aches, to severe symptoms, such as hemorrhagic bleeding and shock. Although it is a non-neurotropic virus, it rarely manifests as a neurological abnormality. Previous data suggests that the incidence of electrolyte disturbance is increasing in patients with dengue. Here, we have described a case of dengue fever with hypokalemia and renal glycosuria. Studies show that the probable mechanism of developing hypokalemia is increased insulin and catecholamine, but it is still not well-established. We propose a mechanism that can explain both hypokalemia and renal glycosuria in our case.

Gait Training With Motor Relearning Program in Conjunction With Functional Electrical Stimulation in Quadriparesis Secondary to Cervical and Lumbar Myelopathy.

Degenerative cervical myelopathy is a frequently encountered age-related pathology following compression of the spinal cord. This case report delineates the clinical manifestation of cervical and lumbar myelopathy in a 78-year-old male patient, characterised by chief complaints of difficulty in moving bilateral upper and lower extremities and difficulty in bed mobility. Motor impairment can manifest in three different presentations, which are paraparesis, hemiparesis, or quadriparesis. The motor relearning program incorporating functional electrical stimulation constitutes a rehabilitative approach used for the restoration of motor function. This study outlines the protocol for the physiotherapy intervention protocol, mainly focusing on gait training. Along with it, balance training, proprioceptive neuromuscular facilitation, etc., were also included. The goal of physiotherapy rehabilitation was to improve the patient's ability to do tasks related to daily living. The outcome measures used were the dynamic gait index, functional independence measure, and Modified Japanese Orthopaedic Association score. We document significant increases in muscular tone and power, improved active range of motion, enhancements in gait parameters, and notable advancements in the individual's functional independence through the implementation of a physiotherapeutic regimen.

Physiotherapy Rehabilitation for Restoring Function in Quadriparesis After Cervical Spine Trauma: A Case Report.

A major neurological disorder with major socioeconomic effects is spinal cord injury (SCI). This case report aims to document the comprehensive physiotherapy rehabilitation intervention employed in the successful restoration of function in a patient with quadriparesis following cervical spine trauma. An 84-year-old male presented with quadriparesis resulting from a traumatic cervical spine injury sustained in a motor vehicle accident. The patient underwent an individualized physiotherapy rehabilitation program consisting of assessment, goal-setting, and targeted interventions. The rehabilitation plan included a combination of a range of motion exercises, strengthening exercises, neuro-muscular re-education, and functional training. The patient's progress was regularly monitored, and adjustments were made to the rehabilitation program as needed. Over the course of the rehabilitation program, the patient demonstrated significant improvements in muscle strength, joint range of motion, and overall functional abilities. Objective measures, such as manual muscle testing and goniometry, were used to track progress. The patient regained independence in activities of daily living, such as self-care and mobility, and exhibited enhanced motor control and coordination. This case report highlights the efficacy of a tailored physiotherapy rehabilitation approach in restoring function in a patient with quadriparesis following cervical spine trauma. The successful outcomes suggest that a comprehensive and individualized rehabilitation program can significantly contribute to the recovery of individuals with similar conditions. Further research and documentation of such cases may provide valuable insights into optimal rehabilitation strategies for individuals with cervical spine injuries and associated neurological deficits.

Hyperinsulinemic State and Hypokalemic Quadriparesis in Tropical Fever: Is There a Link?

It is rare for quadriparesis to manifest as a symptom of tropical illnesses. With a history of only one fever episode one week prior, our patient, a 48-year-old male with obesity and prediabetes, who was also known to have ankylosing spondylitis, presented with acute onset flaccid quadriparesis. He did not exhibit any additional symptoms of dengue, such as bleeding tendencies, petechial rashes, thrombocytopenia, or febrile episodes. Upon examination, it was discovered that he had extremely low serum potassium levels and was dengue non-specific antigen 1 (NS1) positive. His hyperinsulinemia, as seen by elevated C peptide levels, most likely caused a transcellular shift that was then triggered by the dengue infection, leading to hypokalemic paralysis.

Prolonged ventilatory failure and flaccid quadriparesis after ingestion of poison hemlock.

INTRODUCTION: A 28-year-old man presented with acute flaccid paralysis and respiratory failure that persisted for 2 weeks after suicidal ingestion of unknown substances. METHODS: Extensive clinical, nerve, laboratory, and neuroimaging testing excluded alternative causes of this neuromuscular syndrome. Prompted by clues provided by family members, liquid chromatography time-of-flight mass spectrometry was used to investigate for the presence of poison hemlock. RESULTS: Testing of the residue in a jar used for the ingestion of a poisonous concoction confirmed the presence of the nicotinic alkaloid coniine. Analysis of patient serum suggested the presence of conhydrine. Concentrations of amitriptyline and diazepam were also found to be supratherapeutic, but only through the first few days of hospitalization. CONCLUSIONS: Herein we describe a case of reversible coma, flaccid quadriparesis, and neuromuscular respiratory failure caused by intentional ingestion of poison hemlock.

Anterior Cervical Huge Osteophyte Causing Dysphagia: A Case Report.

The prevalence of anterior cervical osteophyte among elderly patients is high due to many causes such as trauma, degenerative changes, and diffuse idiopathic skeletal hyperostosis. Severe dysphagia is one of the main presenting symptoms for anterior cervical osteophytes. We describe a case of a patient with anterior cervical osteophyte with severe dysphagia and quadriparesis. The 83-year-old man presented to the emergency department following the incident of falling on his face. CT and X-ray were done in the emergency department, which showed huge anterior osteophytes at the level of C3-4 compressing the esophagus. The patient's consent was taken and shifted to the operation room and surgery was done. Anterior cervical osteophyte was removed, a discectomy was performed, and a peek cage and screws were inserted for fusion. In many cases of anterior cervical osteophyte, surgery is considered the ultimate treatment for patients to relieve symptoms, improve quality of life, and decrease mortality.

Recurrent hypokalemic paralysis in hypothyroidism.

Hypothyroidism, a commonly encountered thyroid disorder, usually manifests with readily recognizable typical features. However, an unusual presentation of a classic thyroid disorder may hinder accurate diagnosis in certain instances. One such rare initial presentation of hypothyroidism is recurrent hypokalemic paralysis, and existing reports in the literature are sparse. It has been more commonly reported in thyrotoxicosis. We report the case details and clinical outcomes of two middle-aged individuals (a 34-year-old male and a 37-year-old female) with recurrent episodes of hypokalemic paralysis. Their clinical examination revealed pure motor hyporeflexia quadriparesis with hypotonia and diminished deep tendon reflexes without any autonomic dysfunction. They had no significant previous medical history. Biochemical findings revealed hypokalemia in both cases (1.4 and 1.9 mEq/L, respectively) with elevated levels of thyroid­stimulating hormone and thyroid­related antibodies in both individuals, thus, confirming the diagnosis of autoimmune hypothyroidism. Immediate treatment with intravenous and oral potassium correction helped in the recovery. Thyroxine supplementation was considered a follow-up treatment, and for a one-year follow-up period there were no complaints of limb weakness reported in both individual.