Radiological and clinical aspect of Caudal regression syndrome associated with dorsal hemivertebra without maternal diabetes.

Caudal regression syndrome (CRS) is a rare genetic disorder affecting less than 0.1%-0.5% of newborns that manifests as the total or partial absence of lower vertebral structures including the sacral spine. The etiology of CRS remains elusive, but there is compelling evidence supporting a genetic predisposition and a correlation with maternal diabetes. This study presents the case of a 7-year-old girl exhibiting symptoms consistent with CRS including lower limb deficits, abnormal gait, urinary incontinence, and scoliosis. The findings from an MRI scan revealed notable anomalies such as hemivertebra in the dorsal spine, renal deformities, and the absence of secondary neurulation elements in the spine. We chose to delay the hemivertebra surgery because the scoliosis was not highly pronounced. Rather, we directed the child to the urology department for the management of her kidney deformities. This case contributes to the understanding of CRS and underscores the importance of comprehensive diagnostic approaches in elucidating its complex manifestations.

Impact of dual procedures: How combining VP shunt placement for hydrocephalus and myelomeningocele repair in newborns affects complication rates?

To discern the efficacy of simultaneous versus delayed VPS surgery in managing hydrocephalus linked with MMC repair: The debate over the concurrent or deferred placement of ventriculoperitoneal shunts (VPS) during myelomeningocele (MMC) repair in hydrocephalic neonates necessitates a nuanced evaluation of associated risks and benefits. While VPS placement can mitigate cerebrospinal fluid (CSF) leaks and minimize wound dehiscence post-MMC repair, it concurrently introduces potential hazards such as infections and shunt-related malfunctions. This prospective cohort study focused on144 newborns with spinal myelomeningocele and hydrocephalus. Divided into two groups based on the timing of dysraphism repair and VPS placement, 101 children underwent concurrent procedures, while 43 received deferred VPS insertion post-MMC closure. Female patients constituted 60% of the cohort, with lumbar lesions being predominant. The median age for MMC closure was three days. Analysis revealed that the deferred insertion group exhibited higher rates of shunt malfunctions, CSF leaks, and wound dehiscence compared to the concurrent insertion group. Although indications hinted at a potential increase in shunt infections in the immediate insertion group, statistical significance was lacking. The study established a statistically significant association between the timing of shunt insertion during MMC repair and specific outcomes, such as CSF leaks and wound dehiscence. The findings suggest that concurrent shunt insertion during MMC repair may reduce the incidence of these complications compared to deferred insertion. However, no substantial differences emerged in terms of shunt infection and malfunction, emphasizing the persistent challenges associated with these major complications.

Surviving against the odds: exploring the clinical and radiological features of iniencephaly compatible with life. Illustrative case.

BACKGROUND: Iniencephaly is a rare neural tube defect (NTD) characterized by deformities in the occiput and inion, along with rachischisis in the cervical and thoracic spine, resulting in the head appearing in retroflexion. OBSERVATIONS: This report details the case of a female newborn who underwent surgery for an encephalocele. She survived up to 6 months, exhibiting good overall health, although she displayed physical abnormalities, including facial deformity, a short neck, and minor spasms in all limbs. Both cardiovascular and abdominal assessments remained stable, and imaging revealed defects in the occipital bone, a large cephalocele, and spinal dysraphism. LESSONS: Although iniencephaly is generally incompatible with life, a few cases have been reported otherwise. Our patient, one of these notable exceptions, remains alive at 6 months old, possibly due to the lack of major vascular deformities. However, she does exhibit significant psychomotor retardation.

A rare entity of primary hydatid cyst located between the two layers of the intracranial dura in a child: a case report.

INTRODUCTION: Hydatid disease is a parasitic infection caused by the tapeworm Echinococcus granulosus. Intracranial locations are rare and account for less than 3% of all cases. Typically, these cysts are found in the intracerebral spaces. However, this study presents an extremely rare intradural hydatid cyst. To our knowledge no similar case has been previously reported. CASE PRESENTATION: This study presents the case of an 8-year-old boy presented with a 3-month history of headache and vomiting without any neurological deficit. Full radiological investigations were performed, the brain MRI showed a large cerebral hydatid cyst located within the dura layers between the periosteal and the endosteal layers. Surgery was performed without cyst rupture, confirming the intracerebral intradural location. CONCLUSION: Early diagnosis and treatment for intracranial hydatid cysts are crucial to prevent complications such as neurological deficits, seizures, and even death. In this case, the intracerebral intradural location of the cyst is extremely rare.

Novel guanidinoacetate methyltransferase (GAMT) mutation associated with cerebral creatine deficiency syndrome in a Syrian child: a case report.

Guanidinoacetate methyltransferase (GAMT) deficiency, also known as cerebral creatine deficiency syndrome type 2 (CCDS2), is an uncommon disease caused by an innate genetic defect in the metabolic pathway of creatine inherited in an autosomal recessive manner. It is a rare cause of neurological regression and epilepsy. In this report, we present the first GAMT deficiency case in Syria related to a novel variant. Case Presentation: A 2.5-year-old boy presented to the paediatric neurology clinic with evidence of neurodevelopmental delays and intellectual disabilities. Recurrent eye blinking, generalized non-motor (absence) seizures, hyperactivity, and poor eye contact were revealed in the neurological examination. Some athetoid and dystonic movements were noticed. His electroencephalography (EEG) was very disturbed because of generalized spike-wave and slow-wave discharges. Based on these findings antiepileptic drugs were administered. His seizures slightly improved, but then relapsed with myoclonic and drop attacks. After 6 years of unbeneficial treatment, a genetic test was required. Whole-exome sequencing was conducted and identified a novel homozygous GAMT variant (NM_138924.2:c.391+5G>C). Treatment with oral creatine supplementation, ornithine, and sodium benzoate was administered. After 1.7 years of follow-up, the child was almost seizure-free with a remarkable reduction of epileptic activity on EEG. He demonstrated good-but not complete-behavioural and motor improvement due to delayed diagnosis and treatment. Conclusion: GAMT deficiency should be considered in differential diagnoses in children with neurodevelopmental regression along with drug-refractory epilepsy. A special concern is needed in Syria for such genetic disorders; regarding the high prevalence of consanguinity. Whole-exome sequencing and genetic analysis can be used to diagnose this disorder. We reported a novel GAMT variant to extend its mutation spectrum and provide an additional molecular marker for the definitive diagnosis of GAMT deficiency patients and prenatal diagnosis in the affected families.