Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.

OBJECTIVE: Childhood epilepsy is a common neurological disorder with a prevalence of 300-600 cases per 100,000 people. It is associated with refractory epilepsies, global developmental delay, and epileptic encephalopathies, causing epileptic syndromes characterized by cognitive and behavioral disorders. METHODS: In this retrospective cohort study, patients with refractory epilepsy and global developmental delay, defined as epileptic encephalopathy, who applied to the Aydin 7Maternity and Children's Hospital Genetic Diagnosis Center and were followed in the pediatric neurology clinic of our hospital, between July 2018 and July 2021, were included. RESULTS: Targeted next-generation sequencing molecular genetics results were reviewed, and 3 ALDH7A1, 1 AARS, 3 CACNA1A, 1 CTNNB1, 1 DCX, 2 DBH, 2 DOCK7, 1 FOLR1, 2 GABRB3, 2 GCH1, 1 VGRIN2B, 1 GUF1, 3 KCNQ2, 2 KCNT1, 1 NECAP1, 1 PCDH19, 1 PNPO, 1 SCN8A, 1 SCN9A, 4 SCN1A, 2 SLC25A22, 1 SLC2A1, 2 SPTAN1, 2 SZT2, 4 TBC1D24, 2 TH, and 1 PCDH19 (X chromosome) mutations were detected in three of the patients using the next-generation sequencing method. CONCLUSION: Although the development of gene panels aids in diagnosis, there are still unidentified disorders in this illness category, which is highly variable in genotype and phenotype. Understanding the genetic etiology is vital for genetic counseling and, maybe, the future development of remedies for the etiology.

Evaluation of pediatric patients presenting with acute-onset unilateral transient acquired blepharoptosis / Avaliação de pacientes pediátricos apresentando blefaroptose transitória unilateral de início agudo

ABSTRACT Purpose: To evaluate the clinical features of pediatric patients with acute-onset, unilateral transient acquired blepharoptosis. Methods: In this retrospective study, the clinical records of patients between April 2015 and June 2020 were reviewed for evaluation of demographic features, accompanying neurological and ophthalmologic manifestations, symptom duration, etiological cause, and imaging findings. Patients with congenital and acquired blepharoptosis with chronic etiologies were excluded. Results: Sixteen pediatric patients (10 boys and 6 girls) with acquired acute-onset unilateral transient blepharoptosis were included in this study. The patients' mean age was 6.93 ± 3.16 years. The most commonly identified etiological cause was trauma in 7 patients (43.75%) and infection (para-infection) in 5 patients (31.25%). In addition, Miller Fisher syndrome, Horner syndrome secondary to neuroblastoma, acquired Brown's syndrome, and pseudotumor cerebri were identified as etiological causes in one patient each. Additional ocular findings accompanied blepharoptosis in 7 patients (58.33%). Blepharoptosis spontaneously resolved, without treatment, in all the patients, except those with Miller Fisher syndrome, neuroblastoma, and pseudotumor cerebri. None of the patients required surgical treatment and had ocular morbidities such as amblyopia. Conclusion: This study demonstrated that acute-onset unilateral transient blepharoptosis, which is rare in childhood, may regress without the need for surgical treatment in the pediatric population. However, serious pathologies that require treatment may present with blepharoptosis.

RESUMO Objetivo: Avaliar as características clínicas de pacientes pediátricos com blefaroptose adquirida unilateral, transitória e de início agudo. Métodos: Neste estudo retrospectivo, foram revisados prontuários clínicos entre abril de 2015 e junho de 2020. Os pacientes foram avaliados em termos de características demográficas, manifestações neurológicas e oftalmológicas associadas, duração dos sintomas, etiologia e achados de imagem. Foram excluídos pacientes com blefaroptose congênita e com blefaroptose adquirida de etiologia crônica. Resultados: Foram incluídos neste estudo 16 pacientes pediátricos (10 masculinos e 6 femininos) com blefaroptose adquirida transitória unilateral de início agudo. A média de idade dos pacientes foi de 6,93 ± 3,16 anos. As causas etiológicas mais comumente identificadas foram trauma em 7 pacientes (43,75%) e infecção (casos parainfecciosos) em 5 pacientes (31,25%). Além disso, a síndrome de Miller-Fisher, a síndrome de Horner secundária a neuroblastoma, a síndrome de Brown adquirida e pseudotumor cerebral foram determinados como causas etiológicas em um paciente cada uma. Achados oculares adicionais estavam associados à blefaroptose em 7 pacientes (58,33%). Foi observada a resolução espontânea da blefaroptose, sem tratamento, em todos os pacientes, exceto nos pacientes com síndrome de Miller-Fisher, neuroblastoma e pseudotumor cerebral. Nenhum paciente precisou de tratamento cirúrgico. Morbidades oculares, como ambliopia, não foram encontradas em nenhum paciente. Conclusão: Este estudo demonstrou que a blefaroptose transitória unilateral de início agudo, rara na infância, pode regredir sem a necessidade de tratamento cirúrgico na população pediátrica. No entanto, também não deve ser esquecido que patologias graves que requerem tratamento podem se apresentar com blefaroptose.

Acute demyelinating encephalomyelitis and transverse myelitis in a child with COVID-19.

BACKGROUND: Corona virus disease 2019 (COVID-19) includes a wide range of diseases with varying pathophysiology in children and adults. Although the disease mainly affects the respiratory tract, neurological involvement is also reported in the literature. The most common neurological complaints due to COVID-19 are headache, dizziness and anosmia. Acute necrotizing myelitis, acute demyelinating encephalomyelitis (ADEM), acute axonal neuropathy, acute transverse myelitis, and Guillian-Barre syndrome have been reported as neurological dysfunctions associated with COVID-19. CASE: A ten-year-old male patient presented with complaints of fever, headache and generalized muscle pain. The patient developed inability to walk and significant muscle weakness during the disease course, and he was diagnosed with ADEM and transverse myelitis on magnetic resonance imaging (MRI). As the etiological agent, COVID-19 was detected in both the respiratory panel sample and the cerebrospinal fluid (CSF) sample by the polymerase chain reaction (PCR) technique. Pulse steroid, IVIG, and plasmapheresis treatment were administered. He started to stand with support during follow-up. CONCLUSION: We presented a case of COVID-19 related ADEM and transverse myelitis who responded to pulse steroid, IVIG, and plasmapheresis.

Evaluation of pediatric patients presenting with acute-onset unilateral transient acquired blepharoptosis.

PURPOSE: To evaluate the clinical features of pediatric patients with acute-onset, unilateral transient acquired blepharoptosis. METHODS: In this retrospective study, the clinical records of patients between April 2015 and June 2020 were reviewed for evaluation of demographic features, accompanying neurological and ophthalmologic manifestations, symptom duration, etiological cause, and imaging findings. Patients with congenital and acquired blepharoptosis with chronic etiologies were excluded. RESULTS: Sixteen pediatric patients (10 boys and 6 girls) with acquired acute-onset unilateral transient blepharoptosis were included in this study. The patients' mean age was 6.93 ± 3.16 years. The most commonly identified etiological cause was trauma in 7 patients (43.75%) and infection (para-infection) in 5 patients (31.25%). In addition, Miller Fisher syndrome, Horner syndrome secondary to neuroblastoma, acquired Brown's syndrome, and pseudotumor cerebri were identified as etiological causes in one patient each. Additional ocular findings accompanied blepharoptosis in 7 patients (58.33%). Blepharoptosis spontaneously resolved, without treatment, in all the patients, except those with Miller Fisher syndrome, neuroblastoma, and pseudotumor cerebri. None of the patients required surgical treatment and had ocular morbidities such as amblyopia. CONCLUSION: This study demonstrated that acute-onset unilateral transient blepharoptosis, which is rare in childhood, may regress without the need for surgical treatment in the pediatric population. However, serious pathologies that require treatment may present with blepharoptosis.

Hemophagocytic lymphohistiocytosis associated with oxcarbazepine.

Kirik S, Günes H, Yurttutan S, Sarisik N, Acipayam C, Kirik Y. Hemophagocytic lymphohistiocytosis associated with oxcarbazepine. Turk J Pediatr 2019; 61: 297-300. Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening multisystem disorder. Reports of the disorder as a side effect of drugs are extremely rare. We report the case of a 3-year-old boy with a history of epileptic seizures in which oxcarbazepine was added to treatment for the last 35 days and dose had been increased. For 10 days he had a fever, hepatosplenomegaly, rash, edema and other systemic symptoms. He was diagnosed with HLH after bone marrow examination. Oxcarbazepine treatment was terminated after the intravenous immunoglobulin treatment. The next day, clinical and laboratory results had improved. This is the first HLH report of an association with oxcarbazepine. Bone marrow aspiration may be indicated to confirm the diagnosis when facing a patient with systemic symptoms after newly added antiepileptic drug treatment.

Idiopathic Unilateral Paralysis of the Palate in a Youth.

Unilateral isolated paralysis of the soft palate is a rare clinical entity that is associated with rhinolalia and the flow of nasal fluids from the nostril on the affected side. We report a case of a 17-year-old boy admitted complaining of nasal speech and drinks flowing into his right nostril. Most cases of soft palate palsy are idiopathic, whereas a few cases are caused by viral infections or tumors. We describe an isolated case of soft palate palsy with spontaneous recovery within 1 month.

Evaluation of two non-myasthenic patients with ptosis.

Decreased height of the eyelid or the narrowing of the lid is called ptosis. Ptosis has several causes. Malignancy-related conditions such as Horner's syndrome, which causes unilateral ptosis in the pediatric age group, and patients with malignancy receiving chemotherapeutic treatment, are often secondary to these drugs and ptosis is a clue of underlying diseases. Underlying pathologies can lead to different clinical conditions such as cognitive impairment from coma, the presence of ptosis should be cautionary. In this study, we present two patients with malignancy who were admitted with ptosis. The first patient was diagnosed as having neuroblastoma and treated with neuroblastoma-directed chemotherapeutics. The second patient was diagnosed as having acute lymphoblastic leukemia and developed vincristine-induced ptosis and recovered on treatment with pyridoxine and pyridostigmine. In conclusion, non-myasthenic ptosis may develop due to involvement of the central nervous system during malignancy or neurotoxic effects of chemotherapeutic agents. Therefore, patients who present with ptosis should be evaluated for the etiologic diagnosis.