Notes

A review of emotional and also cultural aspects in Charles Bonnet symptoms.
The development of secondary neoplasms following therapeutic cranial irradiation is rare and quite often lethal. Meningiomas, sarcomas, and high-grade gliomas are the most common tumors that manifest as a result of radiation therapy. We report the case of an 11-year-old child who presented with symptoms of supratentorial space-occupying lesion 7 years after curative surgery and cranial irradiation for a posterior fossa ependymoma. Magnetic resonance imaging of the brain revealed a right-sided temporoparietal dural-based contrast-enhancing lesion with evidence of overlying bone and skin involvement. The histological report of ependymoma from the previous surgery led us to suspect that we were dealing with a recurrence until the histopathology of the second surgery revealed highly malignant osteosarcoma. The child recovered fully and underwent chemotherapy, but ultimately succumbed to the disease. We report this case to highlight the importance of recognizing these neoplasms and to review its management.Dengue fever is a common viral infection in the tropical areas, especially in India. The clinical manifestations of dengue infection are broad-spectrum, ranging from asymptomatic to life-threatening dengue shock syndrome. Usually, the dengue virus does not cause neurologic manifestations, but recently this has been documented in some cases. However, there is increasing evidence for dengue viral neurotropism, suggesting there may be an element of direct encephalitis in some dengue patients. Here we are reporting a case of dengue encephalitis in a 2-year-old female child from rural India who was presented with a history of fever, altered sensorium, and seizures. Blood test results of dengue immunoglobulin M (IgM) antibodies were positive. Cerebrospinal fluid analysis showed lymphocytic pleocytosis with elevated proteins and normal glucose. Neuroimaging was normal. In addition, other causes of encephalitis were ruled out by appropriate laboratory investigations. Our case highlights that dengue encephalitis may present even in the absence of neuroimaging findings with classical clinical signs. Hence, dengue encephalitis should be considered in the differential diagnosis of fever with altered sensorium and seizures, especially in areas where dengue fever is endemic.We describe a girl with syndromic autism spectrum disorder (ASD), who at the end of the medical workup proved affected by a succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare autosomal-recessive disorder of degradation of the γ-aminobutyric acid (GABA), that is, the most important central nervous system inhibitory neurotransmitter. The diagnosis of SSADH deficiency was made using a next-generation sequencing (NGS) multigene panel for neurological disorders and was confirmed by urinary organic acid analysis. Compared to the classic description of SSADH deficiency, our patient presented a less severe picture. In fact, she had no epilepsy, and her neuromotor signs were soft, and over time they became less evident. This case report emphasizes the importance of considering in a patient with syndromic ASD, the possible diagnosis of SSADH deficiency, even when all its typical signs are not present. Nowadays, the use of NGS multigene panels could facilitate the etiological diagnosis in individuals with syndromic ASD.Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis. Infants with Joubert syndrome usually present with hypotonia, developmental delay, oculomotor apraxia, and respiratory abnormalities. Seizures in Joubert syndrome are not uncommon. Infantile spasms as presentation are hitherto unreported. Here we present a rare case of an 8-month-old infant diagnosed as Joubert syndrome with ZNF423 mutation who presented with West syndrome. Early diagnosis and appropriate management of the child effectively reduced the spasms.Sneddon syndrome is a rare, non-inflammatory vasculopathy that generally occurs in the third to fourth decade of life but may rarely present in the pediatric population. It is characterized by the skin finding of livedo racemosa and recurrent ischemic strokes. Other common neurologic manifestations include migraine and early cognitive decline. It may be associated with systemic lupus erythematosus (SLE) and antiphospholipid antibodies, or as in our case, thrombophilia and autoimmune workup may be negative. Selleckchem CP21 Optimal treatment for Sneddon syndrome is unknown. Here we report the case of an 18-year-old female, with a 3-year history of livedo racemosa and migraines, who presented with acute expressive aphasia and was found to have an ischemic stroke and an evidence of prior strokes on magnetic resonance imaging (MRI). Autoimmune and cardioembolic causes of stroke were ruled out. Given the findings of livedo racemosa and evidence of recurrent strokes, she was diagnosed with Sneddon Syndrome. Five years earlier, she had been diagnosed with Freiberg disease, which is the avascular necrosis of the second metatarsal head and was likely her first symptom of Sneddon syndrome. This is the first report of Freiberg disease associated with Sneddon syndrome. This paper highlights a rare cause of stroke in the pediatric population as well as the first report of avascular necrosis associated with Sneddon syndrome. Several manifestations of Sneddon syndrome can precede strokes by years. An awareness of those features may allow for the adoption of primary stroke prevention.Myelocystoceles, also known as syringoceles, syringomyeloceles, and lipomeningomyelocystoceles, represent 5% of all lumbosacral skin-covered masses. Terminal myelocystocele (TMC) is a rare variant of spinal dysraphism. At times, patients with TMCs can present with a huge lumbosacral mass (giant TMC). A 14-month-old female child presented with progressive increasing swelling in the lumbosacral region (35 cm × 35 cm × 30 cm) since birth with inability to move both lower limbs. Magnetic resonance imaging revealed a dilated terminal central canal herniating through a spina bifida defect (from L4 to S2) into a huge meningocele, suggestive of a giant TMC. The girl was operated on successfully and was doing well at 6 months follow-up, although neurologically unchanged. Giant TMC is a rare entity and only a few case reports are available in literature. Herein we present a case with TMC with the largest dimensions reported till date.
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