Tetraparesis as an initial manifestation of biotinidase deficiency: a case report.

Biotinidase deficiency (BTD) is an autosomal recessive disorder and causes the deficiency of four biotin-containing carboxylases. The prevalence is estimated at 1 in 60 000 births. BTD is associated with a wide spectrum of clinical manifestations, including abnormalities of the neurological, dermatological, immunological, and ophthalmological systems. Spinal cord demyelination as a manifestation of BTD has been infrequently described. Case presentation: The authors present a case of 2.5-year-old boy complained of progressive weakness in all four limbs, with difficulties in breathing. Clinical discussion: Abdominal examination revealed hepatomegaly and splenomegaly. Also, her parents were first-degree cousins. Therefore, tandem mass spectroscopy and urine organic acid analysis were planned to exclude metabolic disorders. Urinary organic acid analysis revealed elevated levels of methylmalonic acid and 3-hydroxyisovaleric acid. Serum biotinidase activity was found to be 3.9 nmol/min/ml. Oral biotin at a dose of 1 mg/kg daily was initiated. A marked improvement of his neurological deficit was noted over a period of 15 days after treatment and cutaneous manifestations resolved within 3 weeks. Conclusion: Myelopathy due to BTD is a challenging diagnosis. Spinal cord impairment is a rare complication of this disease and is frequently unrecognized. BTD should be included in the differential diagnosis of children presenting with demyelinating spinal cord disease.

Lethargy and quadraparesis as initial manifestations of covid-19 child: Case report.

Introduction: and importance: SARS-CoV-2 infection classically presents with fever and respiratory illness. However, neurological manifestations are also being reported in the literature. Transverse myelitis is caused by inflammation of spinal cord. There are various possible etiologies for this neurologic condition that include viral or bacterial infections. Case presentation: We present a case of 2 -year-old female complained of weakness of all four limbs and lethargy.She was febrile(39), respiratory rate 30/min and oxygensaturation of 89% on room air. Neurological examination revealed intact cranial nerves, GCS of 14/15 and upper and lower limbs weakness with medical research council(MRC) score of 2/5 Sensory examination showed decreased sensation of all modalities in lower limbs with a sensory level at T4. Clinical discussion: Laboratory results and cerebrospinal fluid (CSF) analysis showed normal values. Brain MRI was normal. An urgent Gadolinium-enhanced magnetic resonance imaging of the whole spine was done and revealed extensive diffuse hyper intense signal involving predominantly the grey matter of the upper cervical spinal cord. Mild enlargement and swelling of the cervical cord were also note. She was given pulse doses of IV methylprednisolone 30mg/kg followed by oral prednisolone for 40 days. She was also given IV gamma globulin 400mg/kg for five days. A marked improvement of his neurological deficit was noted over a period of 16 days after treatment. Conclusion: when a patient with myelopathy is systemically ill with fever andloss of consciousness, prompt investigation of the causative agent is needed for appropriate management. Even after the pandemic Status; COVID-19 should be considered a differential diagnosis in patients presenting with loss of consciousness, ataxia, convulsions, motor deficits, encephalitis, myelitis, or neuritis.

Cerebral venous sinus thrombosis as a complication of primary varicella infection in a child, case report.

INTRODUCTION AND IMPORTANCE: Chickenpox (Varicella) is a benign illness caused by varicella-zoster virus, predominant in childhood.Chicken pox related neurological complications are seen in less than 1% cases of chickenpox.Cerebral Venous thrombosis due to primary (VZV) infection is very rare, and it may occurs secondary to primary or re-activation the virus. CASE PRESENTATION: We report a case of 5-year-old female complained of ataxia, vomiting, headache, and drowsiness 7 days after the onset varicella zoster infection. She had vesicular lesions with scab over the trunk and limbs. CLINICAL DISCUSSION: Neurological examination revealed left hemiparesis.Her blood counts and metabolic parameters were normal.Computed tomography brain showed hemorrhagic infarct in the left temporo-parietal region. Coagulation profile was normal. Magnetic resonance imaging (MRI) brain revealed hemorrhagic infarct in the same region. Magnetic resonance Venogram showed thrombosis of left transverse sinus and sigmoid sinus and internal jugular vein.VZV- IgG antibody was positive but CSF VZV PCR (Polymerase chain reaction) was found to be negative.Intravenous acyclovir for 15 days, and low-molecular-weight heparin for 3 days overlapped with oral Warfarin for 3months,. After 3 months follow up, the patient experienced a complete recovery. MRI repeated after 3 months showed recanalization of the sinuses. CONCLUSION: The pathogenic link of occurrence of CSVT after VZV infection is unclear, but some articles showed that it is related to direct endothelial damage by the virus.Early recognition of this complication of VZV infection and prompt treatment is essential to prevent catastrophic complications.

Lethargy as an initial symptom of intussusception secondary to Meckel's diverticulum in a 2.5 year-old girl: Case report.

INTRODUCTION: and importance: Intussusception is one of the most common causes of acute abdomen and surgical morbidities in the childhood. In a paediatric presentation of intussusception due to Meckel's diverticulum there may be acute onset of abdominal pain, vomiting or painless red currant stools. However, Lethargy has been described as a rare presenting symptom. CASE PRESENTATION: We present a case of 2,5 - year old female complained of acute alternation in consciousness followed by continuous vomiting two days later. CLINICAL DISCUSSION: Her neurological examination showed a lethargic child, not reactive and hypotonic. Her past medical history was unremarkable. Abdominal ultrasonography was compatible with ileocolic intussusception. The necrotic bowel and diverticulum were resected, followed by anastomosis of the viable bowel segments. postoperatively the infant recovered dramatically. CONCLUSION: Although lethargy is a rare presenting symptom of Intussusception, it should be kept as a differential diagnosis when a child presents with acute onset of drowsiness with or without abdominal symptoms.

Diagnosis and treatment of Rasmussen's encephalitis pose a big challenge: Two case reports and literature review.

Rasmussen encephalitis (RE) is a rare disease of unknown etiology that causes severe chronic unihemispheric inflammatory disease of the central nervous system mainly in children. It leads to intractable seizures, cognitive decline and progressive neurological deficits in the affected hemisphere. We report two cases of RE, as defined by fulfillment of the 2005 Bien criteria. The diagnostic challenge of characterizing this rare disease will be highlighted by the extensive serum, CSF, MR imaging and EEG data in the two patients. In addition, we will review the various forms of therapy attempted in these two patients, namely anti-epileptic drug therapy and immunomodulatory therapy. Hemispherectomy was done for the second patient with favorable outcomes of controlling seizures, but unfortunately, he died because of meningitis. Until the causes of Rasmussen's encephalitis are known, it is difficult to anticipate how treatments will improve. Such a situation creates a therapeutic dilemma; hemispherectomy is not favored because of the inevitable postoperative functional deficits, but a real risk exists that treatments used to delay progression of the disease will defer definitive surgical treatment beyond the time when an optimum post-hemispherectomy outcome could be expected.