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.

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.

Giant supra and retrosellar glioependymal cyst presenting with only precocious puberty. Clinical study and review of the literature.

INTRODUCTION AND IMPORTANCE: Intracranial glioependymal cysts are an uncommon type of neuroepithelial cyst and are encountered much less frequently than arachnoid cysts. These cysts primarily manifest within the parenchyma of the brain, although exceedingly rare instances have been reported in the lateral ventricles. CASE PRESENTATION: We present a highly unusual case of a glioependymal cyst in a 7-year-old girl. The glioependymal cyst was located in the midline in the suprasellar region and extended to the upper clivus region. Its only manifestation was precocious puberty. We performed endoscopic fenestration of the cyst, leading to a return of hormonal levels to normal and a slight reduction in cyst size. CLINICAL DISCUSSION: A comprehensive search of the Medline database revealed only a few documented cases of glioependymal cysts (fewer than 30 cases). Remarkably, the majority (if not all) were located laterally rather than in the midline of the brain. Endoscopic fenestration and biopsy are effective and confirm the diagnosis. CONCLUSION: This instance of a rare glioependymal cyst located in the midline, spanning the suprasellar and retrosellar regions, is an uncommon occurrence. Its sole presentation was precocious puberty. The successful management of this condition was achieved through an endoscopic approach, leading to the normalization of endocrine abnormalities.

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.