Less than One in a Million, a Rare Case of Sensenbrenner Syndrome

Ideas in Health A case report of apert syndrome in a 13-year-old girl presenting with dental pain

More than coarctation: Williams syndrome with diffuse arteriopathy

Williams syndrome is a rare multisystem genetic disorder caused by a microdeletion at chromosome 7q11.23 involving the elastin (ELN) gene. It commonly presents with cardiovascular abnormalities, developmental delay, connective tissue defects, and characteristic facial dysmorphism. We report a 9-month-old male infant with recurrent respiratory tract infections, developmental delay, and failure to thrive. Bronchoscopy showed mild tracheomalacia and bilateral bronchomalacia, and he had previously undergone right inguinal hernioplasty. On examination, characteristic dysmorphic facial features raised suspicion for Williams syndrome. Echocardiography revealed severe discrete coarctation of the aorta with concentric left ventricular hypertrophy and bilateral superior vena cava. During balloon coarctoplasty, right renal artery stenosis was identified, representing a rare vascular association. Genetic studies confirmed the diagnosis of Williams syndrome with deletion involving chromosome 7q11.23. This case highlights the importance of careful clinical evaluation and genetic confirmation in children with syndromic facies and vascular anomalies for early diagnosis and appropriate multidisciplinary management of Williams syndrome.

Multisuture craniosynostosis and acquired Chiari malformation secondary to vitamin D deficiency rickets: illustrative case

BACKGROUND While frequently sporadic or genetic in etiology, craniosynostosis may occur secondarily due to underlying defects in bone mineralization. X-linked hypophosphatemia represents a common genetic cause of rickets, with sequelae including craniosynostosis and Chiari malformation type I (CM-I). In contrast, severe nutritional vitamin D deficiency–induced rickets represents a rare cause of acquired or postnatal craniosynostosis and CM-I, with few cases reported in the published literature. OBSERVATIONS The authors present the case of a 2-year-old boy with a history of severe vitamin D deficiency rickets who presented with multisuture craniosynostosis, acquired CM-I, and clinical symptoms and signs of increased intracranial pressure (ICP). His headaches and papilledema resolved with cranial vault expansion and bone-only posterior fossa decompression. By the time of his presentation with craniosynostosis, his vitamin D deficiency had been treated and resolved for about 1 year. LESSONS Secondary or postnatal craniosynostosis often does not present with characteristic head shape changes but may be associated with elevated ICP and acquired CM-I, which may require surgical intervention. Late presentation or diagnosis of craniosynostosis in young children without typical features should prompt investigation for underlying disorders of bone metabolism. https://thejns.org/doi/10.3171/CASE26200

Split notochord syndrome presenting as dorsal spinal mass in a neonate: a case report with characteristic MRI findings

Split notochord syndrome is an extremely rare and controversial congenital anomaly considered part of the broader spectrum of complex spinal dysraphism and neurenteric developmental disorders. It results from abnormal embryological separation of the endoderm and ectoderm, leading to a range of vertebral, spinal cord, and potential enteric malformations. Due to significant overlap with other dysraphic conditions, diagnosis is primarily radiological and often challenging. We report a case of a 10-day-old female neonate presenting with a dorsal lumbosacral swelling noted since birth, delivered at home to a mother with no antenatal care. Physical examination revealed a midline, skin-covered spinal mass without cerebrospinal fluid leakage. MRI of the spine, performed using a low-field (0.5 Tesla) system, demonstrated a midline vertebral defect, widening and segmentation abnormalities of posterior elements, and duplication of the spinal cord, with additional features suggestive of severe spinal dysraphism within the neurenteric spectrum. The diagnosis was based solely on imaging findings without surgical or histopathological confirmation. The constellation of findings was most consistent with probable split notochord syndrome within the neurenteric spectrum. The neonate received supportive management but deteriorated and died after seven days of hospitalization. This case highlights a severe form of spinal dysraphism within the split notochord/neurenteric spectrum diagnosed on MRI in a resource-limited setting. It underscores the importance of early antenatal surveillance and postnatal imaging for prompt recognition of complex congenital spinal anomalies. MRI remains the key diagnostic modality for defining the extent of disease and guiding management, although overlap between entities within this spectrum may limit strict diagnostic classification.

Arterial tortuosity syndrome -Bends and turns of life diagnosed antenatally: A case report.

Introduction Arterial tortuosity syndrome is a rare connective tissue disorder characterised by a distinct combination of cardiovascular manifestations, which include the tortuosity and elongation of large- and medium-sized arteries. In addition, the condition is associated with various connective tissue abnormalities, including facial dysmorphism, skin laxity, hernias, premature ageing, chest wall and spine deformities, and hypermobile joints. Arterial tortuosity syndrome is attributed to mutations in the SLC2A10 gene, which plays a critical role in extracellular matrix synthesis, an essential component that maintains the structural integrity of vascular and connective tissues. Case report We present a case of a 21-year-old lady at 40 + 5 weeks of gestation, whose fetus on antenatal sonography showed an extremely tortuous and dilated aorta, and dilated main pulmonary artery and its main branches. The fetal neurosonogram showed prominence and septations in both the lateral cerebral ventricles and a diagnosis of arterial tortuosity syndrome with intraventricular septae secondary to hemorrhage was suspected. At birth, the female neonate exhibited abnormal facial features, lax skin, structural talipes, and hypermobility of joints. The antenatal diagnosis of arterial tortuosity syndrome was confirmed by typical postnatal physical characteristics and computed tomography angiography, which showed the extent of vascular involvement. However, genetic analysis could not be done to further support the diagnosis. Conclusion A comprehensive understanding of the typical imaging features, physical characteristics, and genetic factors associated with arterial tortuosity syndrome can enhance understanding of the broader implications of this pathology across vascular and other connective tissue biology. Such an understanding may lead to improvements in the diagnosis and management of the condition.

The first report of hypohidrotic ectodermal dysplasia caused by a novel mutation and accompanied with pathological femoral neck fracture

Rationale: Hypohidrotic ectodermal dysplasia (HED) is a rare inherited disorder characterized by hypohidrosis, hypotrichosis, and hypodontia. Most cases are caused by mutations in the EDA signaling pathway, whereas TP63-related HED is extremely rare. To our knowledge, this is the first reported case of HED caused by a novel TP63 mutation presenting with a pathological femoral neck fracture. Patient concerns: A 31-year-old woman presented with progressive left hip pain and inability to bear weight for 2 weeks without a history of trauma. She had a lifelong history of hypohidrosis, heat intolerance, sparse hair, hypodontia, dry skin, and nail abnormalities. Diagnoses: Physical examination and radiographs revealed a displaced femoral neck fracture. Laboratory investigations demonstrated severe anemia, end-stage renal disease, secondary hyperparathyroidism, vitamin D deficiency, and osteoporosis. Whole exome sequencing identified a previously unreported heterozygous TP63 frameshift mutation (NM_001114982, c.1092_1093del, p.Asn364fs). Based on the clinical manifestations, laboratory findings, and genetic testing results, the patient was diagnosed with HED, pathological femoral neck fracture, end-stage renal disease, secondary hyperparathyroidism, osteoporosis, and severe anemia. Interventions: After correction of anemia and electrolyte imbalance by hemodialysis and blood transfusion, the patient underwent uncemented bipolar hemiarthroplasty. Outcomes: She began partial weight-bearing ambulation on postoperative day 3 and was discharged on postoperative day 6. Lessons: This case expands the mutational and phenotypic spectrum of TP63-associated HED by describing a previously unreported mutation presenting with a pathological femoral neck fracture and end-stage renal disease. It highlights the importance of early diagnosis, comprehensive genetic testing, multidisciplinary management, and regular follow-up for patients with HED.