The zinc finger homeobox 3 (ZFHX3) gene encodes a transcription factor involved in neurodevelopment and organogenesis. ZFHX3 haploinsufficiency is linked to intellectual disability, epilepsy and neurodevelopmental defects, but its potential involvement in neural tube defects (NTDs) and related structural anomalies is unknown. We report a female proband with a de novo heterozygous ZFHX3 variant (NM_006885.3: c.5876 A>C, p.(Gln1959Pro), identified via exome sequencing. She presented with spina bifida occulta, segmental spinal dysgenesis, bilateral clubfeet, bicuspid aortic valve and genital anomaly. This report suggests an expanded phenotypic spectrum of ZFHX3-associated disorders. Given the known interactions of ZFHX3 with Wnt/β-catenin, mTOR and Hippo signalling pathways, we hypothesise that disruptions in these networks could contribute to NTDs and skeletal defects. No functional studies were performed, so causality cannot be established. Further research and reports of similar phenotypes in ZFHX3 variants are needed to confirm its role in NTDs and other congenital structural anomalies.

Segmental spinal dysgenesis is a rare and complex congenital anomaly that affects the spinal cord. It is hypothesized to be a notochord malformation. Patients generally present with spastic paraparesis and a neurogenic bladder. It is characterized by focal spinal cord dysgenesis and kyphoscoliotic deformity. We present the case of a 2-year-old boy who presented to the outpatient department of our hospital with complaints of recurrent urinary tract infection and fever. On examination, he had bilateral clubfoot, kyphoscoliotic deformity, and paraparesis. Further examination by micturating cystourethrogram revealed bilateral grade V vesico-ureteric reflux. Cystoscopy ruled out a posterior urethral valve. Magnetic resonance imaging of the spine was conducted to evaluate any neurological cause, which revealed a high blunt ending of the spinal cord at the dorsal level 10, with the absence of spinal cord tissue between dorsal 10 and sacral 2 level. Bulky cord-like tissue was noted from the sacral 2-4 level. These findings were associated with a syrinx formation and multiple vertebral malformations. The patient was managed conservatively. Spina bifida is a congenital anomaly resulting from incomplete neural tube development (see Image. Infant With Spina Bifida). The term "spina bifida" is nonspecific and refers to any degree of neural tube closure defect. This condition can be divided into 2 categories—spina bifida occulta and spina bifida aperta. Spina bifida occulta, also known as closed spinal dysraphism, is the mildest form of neural tube defect (NTD), characterized by a concealed vertebral defect with minimal neural involvement. Spina bifida aperta, also known as open spinal dysraphism, refers to a defect in which neural tissue is exposed and communicates with the external environment, such as in meningocele, myelomeningocele, and myeloschisis (see Image. Types of Spina Bifida). These conditions result in a wide range of neurological impairments. Spina bifida is often associated with several other developmental abnormalities, highlighting the importance of an interprofessional medical approach to optimize patient survival and outcomes. Atypical variants of spinal bifida include segmental spinal dysgenesis, lipomyelomeningocele, human tail, membranous meningocele, and myeloschisis. These variants are associated with autonomic dysfunction, kyphotic deformity, and lower limb anomalies.

The aim of this study is to present and discuss atypical instances of spina bifida (SB) within a Nigerian paediatric cohort, highlighting their distinctive clinicoradiological features. Additionally, a brief literature review is provided to contextualise these congenital anomalies. This series comprises eight rare cases of SB managed in a Nigerian neurosurgical facility. Additionally, a brief literature review is provided to contextualise these congenital anomalies. This case series comprises eight rare cases of SB managed in a Nigerian neurosurgical facility. Amongst these, four cases exhibited segmental spinal dysgenesis (SSD; one thoracolumbar, one lumbar, and two sacral). Each of these cases demonstrated diverse associated musculoskeletal, cutaneous, and perineal anomalies, accompanied by varying degrees of neurological dysfunction. Other cases included lipomyelomeningocele (LMMC), human tail (HT), membranous meningocele, and myeloschisis (MSS). Autonomic dysfunction was a common feature in all of the cases, whilst two of the patients presented with congenital kyphotic spinal deformity. Lower limb anomalies varied, including congenital talipes equinovarus deformity, pes planus, congenital calcaneovagus deformity, rocker bottom feet, clinodactyly, and tetrapolydactyly. Remarkably, none of the patients exhibited clinical features indicative of hydrocephalus. SSD, LMMC, HT, membranous meningocele, and MSS represent atypical forms of SB in the Nigerian paediatric population. Early neuroimaging of patients with suspected spinal dysraphism is crucial, as it may reveal a spectrum of diverse vertebral anomalies associated with this neurological condition within the African population.

The aim of this study is to evaluate and compare techniques and outcomes associated with two different technique of pelvic screw insertion in patients with caudal spine absence. A cohort of patients with varying degrees of caudal structural regression, serves as the focal point of this investigation. Pelvic configurations were classified based on established criteria to facilitate comparative analysis. Each patient underwent spinal surgical interventions, with a follow-up period extending beyond 2 years. The primary surgical interventions predominantly involved spinal stabilization coupled with correction of scoliosis and kyphosis through one or two pairs of pelvic screws. In this study, we investigated a cohort of 22 patients with caudal spine absence, encompassing diverse conditions, such as lumbo-sacral aplasia, hemisacrum, and lumbar absence, with preserved sacrum. Following spinal surgery, notable improvements were observed in scoliosis and pathological lumbar kyphosis, with several patients achieving significant functional milestones such as independent ambulation. There were no significant differences in short-term complications between patients undergoing single versus double pair pelvic screw implantation. Long-term complications, primarily non-fusion, were notably more prevalent in patients undergoing fixation with a single pair of pelvic screws. Surgical intervention, particularly spinopelvic fixation, demonstrated promising outcomes in terms of improving spinal deformities. The implantation of two pairs of pelvic screws demonstrates greater reliability compared to the insertion of a single pair, diminishing the risk of non-fusion.

Study DesignRetrospective Cohort Study.ObjectiveThe study aimed to analyze anatomical variants of segmental spinal aplasia (SSA) and investigate factors influencing surgical treatment outcomes, with a specific focus on the incidence of complications.MethodsThe study focused on patients with SSA treated at a single medical center, with over two years of follow-up. Neurological function changes were evaluated using the modified Japanese Orthopedic Scale (mJOA). Functional independence was measured using the Functional Independence Measure (FIM/WeeFIM) scale, and complications, well-being, and reoperation instances were documented. Statistical analyses used ANOVA and Kruskal-Wallis test.ResultsThe predominant localization of SSA in 36 own cases occurs near or at the level of the thoracolumbar junction, often accompanied by significant spinal cord narrowing and a low position of the conus medullaris. Additionally, it frequently presents with aplasia of the lower ribs. Cervicothoracic SSA was more commonly associated with segmentation disorders (P = .04). The most common early complications were wound problems (17%) and neurological deterioration (17%); the most common late complications were: non-fusion (34%); 38% of patients required one or more revision surgery. The type, age of surgery, level of surgery, and initial neurological deficient did not significantly influence the incidence of complications or neurological and functional outcomes.ConclusionSSA, a range of anomalies appearing early in childhood, progresses gradually. Surgery involves vertebrectomy followed by interbody fusion and screw fixation, guided by neurophysiological monitoring. Surgery is recommended for worsening neurological symptoms, but conservative options like bracing can be considered, due to a high risk of complications.