Peripheral nervous system involvement accounts for fewer than 10% of SLE cases with neuropsychiatric manifestations. Guillain-Barré syndrome (GBS) as the presenting, major manifestation of pediatric SLE is extremely rare, and the best treatment approach is unknown. A 14-year-old, previously healthy female teenager developed classic features of GBS with ascending bilateral muscle weakness leading to respiratory insufficiency, associated with protein-cell dissociation in cerebro-spinal fluid, nerve root enhancement by MRI and reduction in compound muscle action potential amplitude. SLE was diagnosed serologically and histologically (lupus nephritis WHO class II). Despite immediate treatment with intravenous immunoglobulin (IVIg), methylprednisolone pulses and subsequently, rituximab, the patient required prolonged mechanical ventilation. She achieved full recovery following 14 PLEX treatments and two more rituximab infusions. Anti-dsDNA, C3, C4 and urinalysis normalized while anti-Smith and Sjögren antibodies persisted 15 months after disease onset, with no other lupus manifestations. Review of the literature revealed two pediatric cases of GBS at the onset of SLE and a third case with GBS 6 years after the diagnosis of SLE. Conventional GBS therapy may not be adequate to treat SLE-GBS. SLE should be included in the differential diagnosis of GBS. Importantly, treatment experiences and outcomes of such cases need be reported to inform future treatment recommendations.
Human herpesvirus 6 (HHV-6) is a member of the Herpesviridae family. There are two HHV-6 species: HHV-6A and HHV-6B. HHV-6B causes the majority of documented primary infections and reactivation events. In this case series, we illustrate the varied spectrum of clinical and radiological features of HHV-6 encephalitis and its management in children.We have described three cases of HHV-6 encephalitis in the age group between nine months and two years. All had an HHV-6 viral load detected in cerebrospinal fluid (CSF) samples. Two of which are of immunocompetent patients. This case series highlights the importance of including HHV-6 infection as one of the differential diagnoses in a child with suspected central nervous system infection and of considering adding CSF HHV-6 polymerase chain reaction (PCR) test for detection. Increasing awareness of this condition will aid physicians in the timely diagnosis and early treatment of HHV-6 encephalitis.
Background: Peripheral nervous system (PNS) involvement, including Guillain Barré Syndrome (GBS), accounts for fewer than 10% of SLE cases with neuropsychiatric manifestations. GBS as the presenting, major manifestation of pediatric SLE is extremely rare, and the best treatment approach is unknown. Case presentation: A 14-year-old, previously healthy female Emirati teenager presented with a classic picture of GBS with ascending, progressive bilateral muscle weakness leading to respiratory insufficiency within five weeks of symptom onset, associated with typical protein-cell dissociation in cerebro-spinal fluid and nerve root enhancement demonstrated by spinal MRI. Subsequently, elevated anti-dsDNA and anti-Smith/RNP and anti-SS-A and -B antibody concentrations were detected in serum, suggestive of SLE. GBS treatment was initiated with IVIG and methylprednisolone pulses, with minimal improvement. The patient required endotracheal intubation and ventilation, followed by a second course of IVIG, rituximab, and eventually plasma exchange (PLEX) therapy. The diagnosis of lupus-associated GBS was corroborated by a kidney biopsy demonstrating lupus nephritis WHO class II with “full house” immunofluorescence pattern. After 14 PLEX sessions, her muscle strength and respiratory efforts had improved substantially. Treatment was completed with two more rituximab infusions, followed by mycophenolate mofetil, in addition to HCQ and tapering doses of oral prednisolone. Five weeks after the last PLEX treatment, she had regained her usual strength and achieved full, sustained recovery from GBS. While she continued to demonstrate moderate anti-dsDNA antibodies and high-level anti-Smith and Sjogren antibodies, C3, C4 and urine readings quickly normalized with no other manifestations of lupus or lupus nephritis 11 months after the initial assessment. At this time she was maintained with hydroxychloroquine, with ongoing depletion of circulating B cells. To our knowledge, this is only the third pediatric patient reported with SLE-GBS.Conclusions: We report severe GBS as the first, dominant manifestation of pediatric SLE. Our case and a review of the literature reveal that cconventional GBS therapy may not be adequate to treat this rare lupus presentation. SLE should be included in the differential diagnosis of GBS. Importantly, treatment experiences and outcomes of such cases need be reported to inform future treatment recommendations.
ATP1A3 mutations have been recognized in infants and children presenting with a diverse group of neurological phenotypes, including rapid-onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. A new phenotype of fever-induced paroxysmal muscle weakness and encephalopathy (FIPWE) in patients with ATP1A3 mutations at c.2267G>A p residue 756H has been described most recently in few cases. Here, we report an additional case with an ATP1A3 mutation at c.2267G>A p residue 756H presenting with fever-induced paroxysmal muscle weakness and encephalopathy. To the best of our knowledge, this is the first reported case from the Middle East. This 18-month-old boy presented with recurrent, reversible fever-induced episodes of seizures, central hypotonia, areflexia, and developmental regression. The mainstay management for patients with ATP1A3 related diseases is symptomatic treatment as there is no specific proposed treatment. Aggressive management of febrile illness may be helpful in alleviating the symptoms.
Background: Long QT syndactyly syndrome (long QT syndrome type 8), also known as Timothy Syndrome (TS) was first described in 1994 with still <50 case reported in the literature. The full spectrum of the syndrome is not yet known.Results: Here we report a girl who presented with new onset refractory seizures and an undiagnosed cause of intermittent abdominal distention. She also had syndactyly of her fingers and toes and was found to have prolonged QT. Upon further investigations she was found to have a de novo pathogenic variant in CACNA1C, along with Segmental Ileal Dilatation (SID), and subsequently diagnosed with Timothy syndrome.Conclusion: To our knowledge, the association of Timothy Syndrome with Segmental Ileal Dilatation, was not described before.
A 7-month-old boy presented to our hospital with complaints of epistaxis. Pancytopenia was found on a blood test, and physical examination was significant for hepatosplenomegaly, acral hyperpigmentation of hands and feet, and hypotonia, along with mild delayed milestones. The infant underwent extensive investigations including metabolic workup and bone marrow aspiration, which revealed abundant megalocytes. Vitamin B12 was deficient (result 82 pg/mL, reference range 187–883 pg/mL); therefore, vitamin B12 therapy was commenced. Following the initiation of vitamin B12 therapy, blood cell lines normalized, neurological symptoms improved, hepatosplenomegaly regressed, and milestones were achieved.
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