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Case Presentation: A 19-year-old male presented for evaluation of breakthrough seizures after inability to refill his medication following recent immigration from Haiti. Previously, the patient had never received neuroimaging due to financial constraints and resource scarcity. Computed tomography and magnetic resonance imaging obtained in the emergency department was significant for large right frontoparietal open-lip schizencephaly with mass effect, a rare congenital neurologic disorder previously undiagnosed in this patient with intractable epilepsy.  Discussion: Schizencephaly is a rare congenital neurodevelopmental disorder, which has diverse presentations ranging from intractable epilepsy to variable degrees of neurocognitive dysfunction. Treatment is generally focused on seizure management and rehabilitation. Furthermore, emergency physicians must be cognizant of patients with social determinants of health, which may have formerly prevented thorough evaluation and aid in appropriate treatment of these patients.

Schizencephaly is a highly uncommon clinical condition characterized by a diverse range of symptoms stemming from its numerous anatomical manifestations. The disorder is characterized by abnormalities in brain structure resulting from disruptions in neuronal migration. This article presents a case of schizencephaly in an Ethiopian child. The child, displaying delayed walking and speech difficulty since birth, was brought to the pediatric outpatient department for examination. The physical assessment revealed left-sided hemiparesis and an inability to sit without assistance. Subsequent magnetic resonance imaging findings confirmed the presence of open-lip schizencephaly. Therefore, neurorehabilitation, specifically highlighting the crucial importance of early intervention in enhancing cognitive and motor functions was initiated. It is imperative to acknowledge that, while a permanent cure for schizencephaly may not currently exist, neuro-rehabilitation plays a pivotal role in enhancing the overall quality of life for individuals affected by this condition.

Septo-optic dysplasia (SOD) is a rare congenital condition characterized by a triad of septum pellucidum dysgenesis, optic nerve hypoplasia, and hypothalamic-hypophyseal dysfunction. In some cases, additional brain anomalies such as schizencephaly can occur, leading to a more complex presentation known as septo-optic dysplasia plus (SOD+). This case report describes a 2-year-old boy presenting with delayed psychomotor development and visual impairment, ultimately diagnosed with SOD+.

Background: Acalvaria, or acrania, is a rare congenital cranial vault defect with neurocranium absences, including complete or part of calvaria flat bones, dura mater, and associated muscles, but with a still present in the central nervous system, skull base, facial bones, and skin-covered the defect. It is a sporadic incidence without apparent genetic factors confirmed. Acalvaria is often misdiagnosed as anencephaly; the distinguishable difference is that anencephaly has an absence (partial or complete) of the brain tissue, including the skull and scalp. Acalvaria is considered a fatal anomaly with a low survival rate, and only a few cases of extended survival have been reported until now. To the best of the author's knowledge, no acalvaria case has been published in Papua, and only one reported case of the coexistence of acalvaria with schizencephaly in Brazil (2018). Case report: Herein, we present a case of an indigenous South Papuan living newborn with primary acalvaria and open-lip schizencephaly in a frontoparietal region. A male newborn baby was born from a 39-year-old female Marind-Anim tribe patient with a 38th week of gestation, with no previous history of miscarriage, is not a consanguineous marriage, and had an unremarkable medical history during this pregnancy. Post-natal physical examinations showed an irregularly shaped head with 11.5 cm diameter concave of the right side, with a soft brain-like consistency palpable and the absence of half right frontoparietal calvarium covered with a presence of scalp and hair. Cranial 2-dimension ultrasonography shows an absence of half right frontoparietal calvaria bone with a complete presence of scalp and periosteum covering the defect with a fluid accumulation (anechoic) below the periosteum. A transverse axis view shows a complete structure but hypoplasia of brain cortex with visible slightly dysgenesis of gyrus and sulcus in both hemispheres convincing the acalvaria condition not anencephaly. A fluid accumulation above brain parenchyma of the frontoparietal region happened to be a cerebrospinal fluid coming from a wide-open cleft extending from the left lateral and fourth ventricles to the cerebral cortex, suggesting a typical condition of open-lip schizencephaly. Further health follow-ups until 6 months old showed still normal physical and behavioral development with no sign of complications. Conclusions: No standard acalvaria treatment is being established; conservative and supportive therapy is mostly taken considering their low survival rate. With the advancement of medical technology nowadays, surgical approaches, including scalp defect closure, bone graft, and 3D-printed defect filling, are being performed and have succeeded in a few cases. Long-term follow-up is required to monitor their neuro-psychological development and complication incidences that need further intervention. [ABSTRACT FROM AUTHOR]

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This case report presents a 21-year-old male with recurrent seizures attributed to isolated temporal lobe closed-lip schizencephaly coexisting with septo-optic dysplasia. Despite adult-onset seizures, the patient lacked motor deficits, maintaining normal developmental milestones. Comprehensive diagnostic modalities, including MRI revealing temporal lobe atrophy and associated abnormalities, contributed to the unique identification of schizencephaly. The classic triad of septo-optic dysplasia further complicated the clinical spectrum. Financial limitations influenced the predominantly conservative management, highlighting healthcare challenges. This case enhances our understanding of the rare congenital disorder, emphasizing the importance of tailored diagnostics and management strategies for diverse presentations of schizencephaly, particularly in the context of associated congenital anomalies.

The COL4A1 (collagen Type 4 alpha1) pathogenic variant is associated with porencephaly and schizencephaly and accounts for approximately 20% of these patients. This gene variant leads to systemic microvasculopathy, which manifests as brain, ocular, renal, and muscular disorders. However, only a few patients with surgical interventions have been reported and the potential surgical risks are unknown. Here, we present the cases of two female patients between 7 and 8 years of age who were diagnosed with the COL4A1 variant and underwent laparoscopy‐assisted percutaneous endoscopic gastrostomy (LAPEG) for oral dysphagia. Their primary brain lesions were caused by porencephaly and paralysis, which are caused by multiple cerebral hemorrhages and infarctions, and both patients had refractory epileptic complications. Although LAPEG was successfully performed in both patients without any intraoperative complications, one patient developed alveolar hemorrhage postoperatively and required mechanical ventilation. Thus, careful perioperative management of patients with the COL4A1 variant is important. [ABSTRACT FROM AUTHOR]

Background: Schizencephaly and encephaloceles are rare developmental birth defects, with the former involving abnormal clefts in the cerebral hemispheres connected to the ventricular system and the latter involving a neural tube defect characterized by the protrusion of brain tissue through an abnormal skull opening. These conditions are individually uncommon, and their simultaneous occurrence in a single patient is exceedingly unusual., Observations: This case report explores the intersection of these two rare congenital malformations in a 2-month-old female patient from an indigenous community in a rural area of Colombia. She presented with open-lip schizencephaly accompanied by a nasoethmoidal encephalocele and additional brain abnormalities, including septum pellucidum agenesis, corpus callosum dysgenesis, and a suspected bilateral optic nerve hypoplasia., Lessons: Management involved a two-step surgical procedure, addressing hydrocephalus with a ventriculoperitoneal shunt and the encephalocele with posterior excision, thereby facilitating optimal cortical gray matter development and enhancing neurological outcomes. https://thejns.org/doi/10.3171/CASE24259.

Schizencephaly is a highly uncommon clinical condition characterized by a diverse range of symptoms stemming from its numerous anatomical manifestations. The disorder is characterized by abnormalities in brain structure resulting from disruptions in neuronal migration. This article presents a case of schizencephaly in an Ethiopian child. The child, displaying delayed walking and speech difficulty since birth, was brought to the pediatric outpatient department for examination. The physical assessment revealed left-sided hemiparesis and an inability to sit without assistance. Subsequent magnetic resonance imaging findings confirmed the presence of open-lip schizencephaly. Therefore, neurorehabilitation, specifically highlighting the crucial importance of early intervention in enhancing cognitive and motor functions was initiated. It is imperative to acknowledge that, while a permanent cure for schizencephaly may not currently exist, neuro-rehabilitation plays a pivotal role in enhancing the overall quality of life for individuals affected by this condition., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Background: Poliomyelitis is an infectious disease of the peripheral motor neurons, which predominantly affects children and causes residual palsies. Because of the oral poliomyelitis vaccination started in Germany in 1960 and 1962 and the following rapid decline of the incidence of this infection, the postpolio syndrome in Germany is a disease of older people., Methods: Since 2008, we have offered a poliomyelitis outpatient consultation at the Center of Geriatrics, Protestant Hospital Göttingen-Weende and have treated 33 patients., Results: The spectrum of persistent deficits after poliomyelitis ranges from palsy of single extremities to severe disability with (temporary) ventilator dependence. Many patients suffer from scoliosis or shortening of limbs of different degrees, which promotes degenerative diseases of the spinal cord and joints with secondary myelopathy, injury of spinal nerve roots or peripheral nerves or respiratory failure. The postpolio syndrome is characterized by an increase of the functional deficits after decades of compensation. The palsies of 2 of the 33 patients were not caused by poliomyelitis but by myelomeningocele and schizencephaly, respectively., Conclusion: The motor deficits acquired in childhood enable the majority of the patients to successfully master their lives. Because of the limited compensatory capacities of postpolio patients, even small increases in the severity of the palsy can cause a severe decline of the functional status and an impairment of the ability to live an independent life. In a substantial proportion of patients with the diagnosis poliomyelitis the symptoms are caused by other diseases., (© 2023. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

Septo-optic dysplasia (SOD) is a rare congenital condition characterized by a triad of septum pellucidum dysgenesis, optic nerve hypoplasia, and hypothalamic-hypophyseal dysfunction. In some cases, additional brain anomalies such as schizencephaly can occur, leading to a more complex presentation known as septo-optic dysplasia plus (SOD+). This case report describes a 2-year-old boy presenting with delayed psychomotor development and visual impairment, ultimately diagnosed with SOD+., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)