Neurofibromatosis Type 1 (NF1) and Sturge-Weber syndrome (SWS) are both genetic disorders with distinct clinical manifestations. NF1 is characterized by multiple neurofibromas, café-au-lait spots, axillary freckling, and potential optic gliomas due to mutations in the NF1 gene on chromosome 17. In contrast, SWS is marked by capillary malformations, leptomeningeal angiofibromas, and congenital glaucoma resulting from post-zygotic mutations in the Guanine Nucleotide-Binding Protein (G Protein), subunit Alpha (GNAQ) gene. Here, we report an exceptional coexistence of both NF1 and SWS. The patient displayed multiple café-au-lait spots, neurofibromas, axillary freckling, fulfilling the criteria for NF1. Concurrently, the patient exhibited a port-wine stain in the periorbital territory aligning with the clinical features of SWS.

Background/Objectives: Minor physical anomalies (MPAs) are subtle morphological markers of disrupted neuroectodermal development occurring during early gestation. Their increased prevalence has been reported in several neurodevelopmental and psychiatric conditions, including schizophrenia. However, data on MPAs in pediatric psychosis remain limited. This exploratory descriptive study aimed to characterize the occurrence of MPAs and congenital malformations in children presenting with early-onset psychotic symptoms and to illustrate the clinical heterogeneity through two representative cases. Methods: All participants underwent a comprehensive head-to-toe examination by a trained child and adolescent psychiatrist to identify MPAs. Key anatomical regions, including the face, hair vortex, palate, and extremities, were systematically photographed. Results were corroborated by MRI brain screening and consulted with a clinical geneticist. Anomalies were classified using the standardized Elements of Morphology terminology. Results: Among the 19 study participants, seven (37%) were diagnosed with very early-onset schizophrenia (VEOS). Identified minor physical anomalies included epicanthus (n = 5), café au lait spots (n = 2), and discoloured spots (n = 1). Furthermore, major congenital malformations were detected, specifically Arnold-Chiari malformation type I (n = 1), incomplete hippocampal inversion (n = 1), and a temporal cortex malformation (n = 1). Conclusions: MPAs and selected neuroanatomical anomalies were observed in a subset of children with early-onset psychotic symptoms. While the small sample size and absence of a control group limit interpretability, these exploratory findings suggest that systematic physical examination may provide supportive clinical information in the assessment of pediatric psychosis. Larger, controlled studies are needed to clarify whether specific MPAs may serve as early markers of neurodevelopmental vulnerability.

Café-au-lait macules (CALMs) are relatively common in clinical manifestations, mostly present with 1 to 3. Multiple CALMs are unusual and may reveal underlying hereditary diseases. This article summarizes clinical features and diagnostic criteria of some CALMs-related syndromes, aiming at enhancing clinicians' awareness of CALMs, improving the early diagnosis and intervention, and reducing or preventing the occurrence of severe complications.

Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder caused by mutations in the NF1 gene and is commonly associated with ocular manifestations such as Lisch nodules, optic pathway gliomas, and choroidal abnormalities. Retinal structural changes are rarely reported. The authors describe a 3-year-old girl with NF1 who presented with decreased vision in her left eye. Ophthalmic imaging revealed an epiretinal fibrovascular membrane with vitreoretinal traction, cystic macular changes, and localized tractional retinal detachment (TRD) with a retinal tear. RetCam (Clarity Medical Sysetms, Inc) imaging and fluorescein angiography demonstrated vitreous opacities, fibrovascular adhesions, and vascular leakage. Systemic examination identified multiple café-au-lait spots and a plexiform neurofibroma confirmed by histopathology. The patient underwent pars plana vitrectomy with membrane removal and silicone oil tamponade, resulting in stable retinal attachment during follow-up. This case expands the spectrum of retinal manifestations associated with NF1 and highlights the importance of regular ophthalmic surveillance in affected children.

McCune-Albright syndrome (MAS) is a rare disorder characterized by fibrous dysplasia (FD), café-au-lait spots, and hyperfunctioning endocrinopathies. FD lesions can overproduce fibroblast growth factor-23 (FGF-23), leading to renal phosphate wasting, hypophosphatemia, and impaired bone mineralization. Conventional treatment with oral phosphate and calcitriol is limited by gastrointestinal intolerance. Burosumab, a monoclonal antibody against FGF-23, is approved for X-linked hypophosphatemia and tumor-induced osteomalacia and has shown promise in case reports of pediatric and adult patients with MAS-related FGF-23-mediated hypophosphatemia. We describe a 46-year-old woman with MAS and extensive FD who presented with worsening bone pain and FGF-23-mediated hypophosphatemia. She was started on phosphate and calcitriol with improvement in pain. Due to failure to achieve treatment targets, she was transitioned to burosumab 0.50 mg/kg injections every 4 weeks with normalization of serum phosphorus but persistent elevation of alkaline phosphatase. This case represents the second reported adult and oldest patient treated with burosumab for MAS-related FGF-23-mediated hypophosphatemia after failure of conventional therapy. Although its use in MAS remains off-label, burosumab may provide a more targeted and better-tolerated therapeutic option.

Objective: To summarize the characteristics and prognosis of infantile cholestasis caused by McCune-Albright syndrome (MAS). Methods: A case series study was conducted. Clinical data was collected and analyzed from four infantile cholestasis cases caused by MAS at Pediatric Liver Center, Children's Hospital of Fudan University from February 2016 to October 2025. Descriptive analysis was performed on their clinical characteristics, biochemical examinations, liver ultrasound, liver histopathology, genetic testing, treatment, and prognosis. Results: Among the 4 children (2 males and 2 females), the age of onset was the neonatal period, and presented with jaundice as the initial symptom. Three cases (case 1-3) had pale stools. Mild hepatomegaly was present in all patients. Biochemical examinations revealed elevated gamma-glutamyl transferase (GGT) levels, which were 124, 128, 78, and 258 U/L, accompanied by severely elevated alanine aminotransferase and aspartate aminotransferase levels, with peak values of 2 312 and 1 742 U/L. Liver histology in case 1 and case 3 at 2 months of age showed cholestasis, fibrous tissue hyperplasia, separation of lobules of liver, mild bile ducts hyperplasiamild. Follow-up liver histopathology in case 1 at 1.3 years of age revealed significant improvement in inflammation and fibrosis. Liver histopathology in case 4 at 3.2 years of age showed mild cholestasis, mild inflammation in the portal areas and reduced number of intrahepatic bile ducts. While the cholestasis subsided spontaneously by approximately 8 months of age, liver transaminase abnormalities could last for several years, and only 1 case (case 3) returned to normal after 1.9 years. Café-au-lait spots were present at birth in 3 cases (case 1, 3, 4) and appeared at 2 months of age in 1 case (case 2). Precocious puberty and bony abnormality occurred later than the onset of cholestasis. The results of whole exon sequencing of blood samples from all the four cases were negative, whereas GNAS variant was identified in the liver tissue of case 4. Conclusions: MAS can involve the liver. In infancy, it can present as high-GGT cholestasis accompanied by severely elevated transaminases. Although jaundice may resolve spontaneously in infants, abnormal transaminase levels can persist. Detection of GNAS variants in liver tissue may facilitate early diagnosis.

McCune-Albright syndrome (MAS) is a rare disorder caused by somatic GNAS gene mutations, characterized by peripheral precocious puberty (PPP), café-au-lait spots, and fibrous dysplasia of bone (FD). This case report details a 3-year-and-10-month-old girl presenting with vaginal bleeding, scattered café-au-lait spots, elevated estradiol (E2: 57 pg/mL), and a large right ovarian cyst (72 × 44 × 71 mm). Diagnostic evaluations confirmed gonadotropin-independent precocious puberty without central endocrine abnormalities. The patient was diagnosed with MAS and treated with letrozole (2.5 mg/day), an aromatase inhibitor, under close monitoring. Over 13 months, letrozole therapy resulted in complete resolution of vaginal bleeding and ovarian cysts, suppression of estrogen levels (E2 < 15 pg/mL), and stabilization of bone age progression. Height and weight remained within normal percentiles, with no adverse effects observed. This case underscores the efficacy and safety of letrozole in managing MAS-associated PPP, highlighting its role in delaying skeletal maturation and improving clinical outcomes. Early intervention and multidisciplinary monitoring are critical to optimize long-term prognosis in MAS patients.

Endodermal cysts (ECs) are rare benign cystic lesions of the central nervous system. Neurofibromatosis type 1 (NF1) is a genetic disorder associated with neural tumors, but co-occurrence with EC is exceedingly uncommon. We report the case of a 29-year-old male with NF1, characterized by café-au-lait spots and a family history, who presented with headache and left upper limb deficits following minor head trauma. Imaging revealed a posterior fossa tumor. Due to progressive neurological decline, the mass was surgically resected. Intraoperative findings showed a yellowish-white, jelly-like accumulation. Pathological examination confirmed the diagnosis of EC, which was characterized by a wall lined with ciliated epithelium, but lacking skin appendages in the cyst wall. This case suggests that ECs should be included in the differential diagnosis of extra-axial tumors in the posterior fossa. Given the rarity of ECs, a potential association with NF1 is suspected in this case, although the causal relationship remains unclear.

Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by benign tumors of the nervous system, typically associated with café-au-lait spots and neurofibromas. Macrodactyly usually is referred to as a rare congenital anomaly with overgrowth of bone and soft tissue. In addition, macrodactyly-like patterns of localized digital overgrowth have been described, including nerve-related segmental overgrowth. We report the case of a 22-year-old woman from northern Tanzania presenting with unilateral macrodactyly-like overgrowth of the non-dominant left hand and clinical features of NF1, including café-au-lait spots and multiple neurofibromas. Surgical excision of redundant soft tissue resulted in an improved hand contour and restoration of the first web space. The postoperative course was uncomplicated with preserved early sensory function; however, meaningful assessment of range of motion and dexterity was not possible due to the limited stay of medical staff until three days postoperatively. Intraoperatively, markedly enlarged digital nerves were observed, and histopathology confirmed a plexiform neurofibroma consistent with NF1‑related nerve‑associated segmental overgrowth rather than classical idiopathic macrodactyly. This rare presentation of NF1 with unilateral macrodactyly-like overgrowth highlights the diagnostic challenge of distinguishing true congenital macrodactyly from NF1-associated nerve-related segmental overgrowth in the absence of modern diagnostic tools. Nevertheless, the case emphasizes the need for further investigation into NF1-associated tissue overgrowth and macrodactyly-like digital enlargement, as well as the role of surgery in improving hand contour, potential function, and quality of life in low-resource settings.

Neurofibromatosis type 1 (NF1), also known as Von Recklinghausen disease, is a multisystemic, hereditary, autosomal dominant condition. It is caused by the development of tumors in the nervous system, resulting from mutations in the NF1 gene located on chromosome 17q11.2. Gastrointestinal involvement is mainly extraperitoneal, with mesentery lesions being the least common. We report a case of an isolated jejunal mesenteric neurofibroma diagnosed by ultrasound and CT scan and confirmed by histopathological examination in a nine-year-old child with diffuse café-au-lait spots who presented with chronic abdominal pain.

BACKGROUND: McCune–Albright syndrome (MAS) is a rare sporadic disorder caused by post-zygotic activating mutations in GNAS, classically characterized by café-au-lait macules, endocrine hyperfunction, and fibrous dysplasia of bone (FD). MAS presents challenges in anesthetic management due to airway difficulties, cervical spine deformities, and bone lesions. CASE PRESENTATION: A 40-year-old female with a history of growth hormone-secreting macroadenoma, for which she underwent transsphenoidal resection, presented with a pathological cervical spine fracture. Enhanced cervical MRI showed destruction of high cervical vertebrae and multiple space-occupying lesions. Awake fiberoptic intubation was performed under sedation, followed by general anesthesia induction and maintenance with a balanced intravenous-inhalational technique. CONCLUSION: This case highlights the importance of preoperative airway assessment and the use of awake fiberoptic bronchoscopy for intubation in MAS patients, especially those with cervical spine lesions. Personalized anesthetic strategies are essential for optimizing patient safety.