Objective:To investigate the clinical characteristics of encephalocraniocutaneous lipomatosis (ECCL) in pediatric patients.Methods:A retrospective analysis was conducted on the clinical data of 2 ECCL cases admitted to Children′s Hospital Affiliated to Zhengzhou University between January 2024 and December 2024. Additionally, a review of relevant literature was performed to summarize the clinical features of this condition.Results:Case 1 is a male patient aged 2 years and 10 months, while case 2 is a female patient aged 8 months. Both patients presented with seizures and exhibited nevus psiloliparus on the scalp, non-scarring alopecia, nodular skin tags around the eyes, and ocular choristomas. Brain magnetic resonance imaging revealed leptomeningeal angiomatosis in both cases, with case 1 also demonstrating an intracranial lipoma and case 2 showing localized cerebral atrophy and an arachnoid cyst. Whole-exome sequencing of peripheral blood and copy number variation analysis in both cases did not identify any pathogenic variants. Additionally, no relevant pathogenic variants were detected in the scalp lesion tissue of case 2. A review of the literature revealed that, to date, there have been 5 reported domestic cases, 132 reported foreign cases in pediatric populations, totally 139 cases including 2 cases described in this article. Among these patients, 86 are male, 49 are female, and the gender of 4 cases remains unspecified. Clinical manifestations observed included seizures in 79.0% (64/81) of cases and developmental delay in 64.7% (57/88). Cutaneous lesions were characterized by non-scarring alopecia in 100% (97/97) of cases,non-hair-bearing fatty tissue nevi in 98.3% (58/59), nodular skin tags in 96.5% (56/58), and subcutaneous lipomas in 94.8% (73/77). Ocular lesions predominantly involved choristomas, occurring in 91.8% (90/98) of cases. Central nervous system abnormalities were identified as ventricular dilatation or hydrocephalus in 85.0% (68/80) of cases, intracranial lipomas in 82.1% (69/84), localized cerebral atrophy in 80.9% (34/42), intracranial vascular anomalies in 74.1% (23/31), and spinal lipomas in 66.6% (30/45).Conclusions:ECCL is an uncommon neurocutaneous disorder with the potential to impact various organ systems, notably the integumentary, ocular, and central nervous systems. Pediatric patients may exhibit symptoms such as seizures, developmental delays, and additional clinical manifestations, necessitating vigilant monitoring and management.

Objective:To investigate the clinical characteristics of encephalocraniocutaneous lipomatosis (ECCL) in pediatric patients.Methods:A retrospective analysis was conducted on the clinical data of 2 ECCL cases admitted to Children′s Hospital Affiliated to Zhengzhou University between January 2024 and December 2024. Additionally, a review of relevant literature was performed to summarize the clinical features of this condition.Results:Case 1 is a male patient aged 2 years and 10 months, while case 2 is a female patient aged 8 months. Both patients presented with seizures and exhibited nevus psiloliparus on the scalp, non-scarring alopecia, nodular skin tags around the eyes, and ocular choristomas. Brain magnetic resonance imaging revealed leptomeningeal angiomatosis in both cases, with case 1 also demonstrating an intracranial lipoma and case 2 showing localized cerebral atrophy and an arachnoid cyst. Whole-exome sequencing of peripheral blood and copy number variation analysis in both cases did not identify any pathogenic variants. Additionally, no relevant pathogenic variants were detected in the scalp lesion tissue of case 2. A review of the literature revealed that, to date, there have been 5 reported domestic cases, 132 reported foreign cases in pediatric populations, totally 139 cases including 2 cases described in this article. Among these patients, 86 are male, 49 are female, and the gender of 4 cases remains unspecified. Clinical manifestations observed included seizures in 79.0% (64/81) of cases and developmental delay in 64.7% (57/88). Cutaneous lesions were characterized by non-scarring alopecia in 100% (97/97) of cases,non-hair-bearing fatty tissue nevi in 98.3% (58/59), nodular skin tags in 96.5% (56/58), and subcutaneous lipomas in 94.8% (73/77). Ocular lesions predominantly involved choristomas, occurring in 91.8% (90/98) of cases. Central nervous system abnormalities were identified as ventricular dilatation or hydrocephalus in 85.0% (68/80) of cases, intracranial lipomas in 82.1% (69/84), localized cerebral atrophy in 80.9% (34/42), intracranial vascular anomalies in 74.1% (23/31), and spinal lipomas in 66.6% (30/45).Conclusions:ECCL is an uncommon neurocutaneous disorder with the potential to impact various organ systems, notably the integumentary, ocular, and central nervous systems. Pediatric patients may exhibit symptoms such as seizures, developmental delays, and additional clinical manifestations, necessitating vigilant monitoring and management.

Objective:To summarize the clinical and genetic characteristics of children with Menkes disease(MD).Methods:The clinical manifestations, auxiliary examinations and genetic testing results of 15 MD children admitted to the Department of Pediatrics of the Third Affiliated Hospital of Zhengzhou University, Children′s Hospital Affiliated of Zhengzhou University and the First Affiliated Hospital of Zhengzhou University from June 2016 to October 2022 were analyzed retrospectively.These children were followed up.Results:All the 15 children were male.The age at onset was ranging from 9 days to 5.5 months.White skin, curly hair, skin laxity, hypotonia and severe developmental delay were found in all children, with epilepsy in 13 children, anemia in 11 children and granulocytopenia in 4 children.The concentration of ceruloplasmin in the serum of MD children was lower than that in healthy children of the same age.The concentration of ceruloplasmin in MD children younger than 3 months was significantly lower than that in healthy children of the same age and MD children older than 3 months.The brain magnetic resonance imaging showed abnormalities in all 15 children.Twelve children showed tortuous intracranial vessels in brain magnetic resonance angiography examinations.All the 15 children had ATP7A gene pathogenic variants, including 4 missense variants(2 cases with c. 2179G>A), 3 frameshift variants, 3 nonsense variants, 3 exon deletions and 2 splice site variants.Among these children, 1 had a novel gene variant that had not been reported so far(c.2968C>T). Conclusions:MD has early onset age and diverse clinical manifestations, but also has characteristic clinical manifestations and applicable auxiliary examinations.Its diagnosis depends on genetic testing.The c. 2179G>A and exon deletions may be hot mutations in Chinese MD patients.

Objective To explore the protective effect of brain-derived neurotrophic factor (BDNF) on cultured rat cortical neurons against glutamate (Glu)-induced injury and its mechanism. Methods Cortical neurons were primarily cultured from 1-day-old newborn Sprague-Dawley rats and then cultured for 7 d. The cortical neurons were divided randomly into 3 groups: control group,Glu group and BDNF group after identified with neuron-specific enolase (NSE) immunostaining. The cells of BDNF were treated with 50 ng/ml BDNF on day 6 for 24 h followed by cultured with 50 ?mol/L Glu for 0.5 h. While,the cells of Glu group were cultured with 50 ?mol/L Glu for 0.5 h on day 7. The control cells received no such treatments. On day 8,cell viability were determined by the colorimetric MTT assay. The morphological features of the neuron cells were observed under AO/EB fluorescence microscopy. Expressions of p75NTR,JNK and ERK were observed using Western blot analysis. Results On day 8,the primary cortical neurons grew well. BDNF protected cortical neural cells from Glu injury. Cell viability of BDNF group was (1.14?0.06),significantly higher than that of Glu group (0.72?0.10,P