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Journal of Family Medicine and Primary... May 2022Nevus flammeus is the most common benign congenital capillary malformation, often known as a port-wine stain. Sturge-Weber syndrome (SWS) is a congenital, sporadic,...
Nevus flammeus is the most common benign congenital capillary malformation, often known as a port-wine stain. Sturge-Weber syndrome (SWS) is a congenital, sporadic, nonfamilial disease characterized by intracranial and ophthalmic vascular anomalies and nevus flammeus. It usually manifests as developmental delay, learning problems, paralysis, seizures, glaucoma and attention deficit, and hyperactivity disorder. A 29-year-old male patient presented with a reddish patch over the face since birth. He was found to have hemihypertrophy of face, hemiparesis of right limbs, and low intelligence quotient. On ophthalmic examination, the patient was found to have glaucoma and only perception of light in the left eye. Computed tomography brain showed atrophy of the left cerebral hemisphere and calcifications in the left frontal, parietal and occipital regions. With these findings, he was diagnosed as SWS type I. A multidisciplinary approach was followed for patient evaluation and management. This case also highlights the irreversible sequelae of this rare phacomatosis.
PubMed: 35800561
DOI: 10.4103/jfmpc.jfmpc_2054_21 -
Case Reports in Pediatrics 2014Nephroblastomatosis (NB) has been considered as a precursor of Wilms tumor (WT). The natural history of NB seems to present significant variation as some lesions may...
Nephroblastomatosis (NB) has been considered as a precursor of Wilms tumor (WT). The natural history of NB seems to present significant variation as some lesions may regress spontaneously, while others may grow and expand or relapse and develop into WT later in childhood. Although, most investigators suggest adjutant chemotherapy, the effect and duration of treatment are not well established. Children with diffuse perilobar NB, Beckwith-Wiedemann syndrome, and hemihypertrophy seem to particularly benefit from treatment. We discuss our experience on two cases of NB and we review the literature for the management of this rare condition.
PubMed: 25114825
DOI: 10.1155/2014/756819 -
Revista de Neurologia Aug 2014Diploid/triploid mosaicism is a rare chromosomal abnormality. It is caused by a failure in the postzygotic division during embryonic development. It results in the... (Review)
Review
INTRODUCTION
Diploid/triploid mosaicism is a rare chromosomal abnormality. It is caused by a failure in the postzygotic division during embryonic development. It results in the coexistence of two genetically heterogeneous cell lines (46,XX and 69,XXX) in one individual. His clinical phenotype is characteristic. Pigmentary changes with a distribution pattern following Blaschko's lines abnormalities in other ectoderm-derived tissues are the main diagnostic signs.
CASE REPORTS
Three cases of diploid/triploid mosaicism are described, and compared to the previously reported cases. The most frequently observed symptoms were mental retardation, truncal obesity, short stature, hemihypertrophy, small and narrow hands with clino and camptodactyly. Phenotypic characteristics of our three patients were similar to those of previously reported cases. Although there is no single and specific phenotype associated with mosaicism diploid/triploid, there are some dysmorphic features that shape a recognizable malformative syndrome. Peripheral blood lymphocytes karyotype was normal in our patients. Diagnosis was reached performing a fibroblast karyotype from hypopigmented skin.
CONCLUSIONS
Intellectual disability associated with truncal obesity, short stature, hemihypertrophy or clino/camptodactyly should suggest to clinicians the possible existence of a diploid/triploid mosaicism. In most cases, karyotype from fibroblasts is needed to reach the diagnosis.
Topics: Abnormal Karyotype; Abnormalities, Multiple; Abortion, Habitual; Epilepsy, Absence; Face; Female; Fetal Growth Retardation; Fibroblasts; Heart Defects, Congenital; Humans; Hypopigmentation; Infant, Newborn; Infant, Small for Gestational Age; Intellectual Disability; Lymphocytes; Mosaicism; Obesity, Abdominal; Phenotype; Retrospective Studies; Syndactyly; Triploidy
PubMed: 25059266
DOI: No ID Found -
Cureus Apr 2022The phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a collection of diseases stemming from mutations in the PTEN tumor suppressor gene and is...
The phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a collection of diseases stemming from mutations in the PTEN tumor suppressor gene and is characterized by variable expressivity and abnormal overgrowth in multiple body systems. Its clinical manifestations include, but are not limited to, lipomas, limb overgrowth, dermatologic lesions, and malignancy. The infrequency of occurrence and broadness of clinical presentation has made the diagnosis and differentiation of different subtypes of PHTS challenging. This case report describes a five-year-old patient with a history of autism and macrocephaly who presented to the emergency department with right lower quadrant (RLQ) pain concerning for appendicitis. A physical exam was significant for right leg hemihypertrophy. Imaging ruled out appendicitis but diagnosed two large right-sided abdominal lipomas. The patient was discharged with the recommendation to pursue genetic testing given the physical exam findings and history. Following confirmation of a PTEN tumor suppressor gene mutation, the patient continued to have increased frequency of abdominal pain, developed vision changes, and was diagnosed with a benign follicular thyroid nodule. Hemihypertrophy, recurrent unilateral lipomas, and a confirmed PTEN mutation are consistent with a diagnosis of Proteus-like syndrome, a rare subtype of PHTS.
PubMed: 35582557
DOI: 10.7759/cureus.24135 -
Journal of Investigative Medicine High... 2022Beckwith-Wiedemann syndrome (BWS) is an epigenetic disorder of imprinting on the chromosome 11p15 region that presents with clinical features, such as macroglossia,...
Beckwith-Wiedemann syndrome (BWS) is an epigenetic disorder of imprinting on the chromosome 11p15 region that presents with clinical features, such as macroglossia, abdominal wall defects, neonatal hypoglycemia, hemihypertrophy, and embryonal tumors. Phyllodes tumors (PTs) are rare fibroepithelial tumors that account for 0.3% to 1% of breast tumors and present in women aged 35 to 55 years. Here we describe a rare case of metastatic malignant phyllodes tumor in a 27-year-old woman with BWS and uniparental disomy (UPD) of chromosome 11p15.5. To our knowledge, this is the first case report in literature to describe metastatic malignant phyllodes tumor in a woman with BWS.
Topics: Infant, Newborn; Humans; Female; Adult; Beckwith-Wiedemann Syndrome; Phyllodes Tumor; Genomic Imprinting; Uniparental Disomy; Neoplasms, Second Primary
PubMed: 36314358
DOI: 10.1177/23247096221133197 -
Indian Journal of Ophthalmology Jul 2022Neurofibromtosis-1 (NF-1) is the commonest oculo-neuro-cutaneous syndrome with multiple ocular manifestations. Reporting three children who presented with unilateral...
Neurofibromtosis-1 (NF-1) is the commonest oculo-neuro-cutaneous syndrome with multiple ocular manifestations. Reporting three children who presented with unilateral glaucoma (buphthalmos), ipsilateral facial hemihypertrophy, and eyelid plexiform neurofibroma: completing the triad of François syndrome, a rare NF1 variant. Two presented with leukocoria and were referred to as retinoblastoma suspects. Histopathology showed ganglioneuroma, a benign choroidal tumor, associated with NF-1, which does not need treatment. Knowledge of this rare condition avoids misdiagnosis of retinoblastoma, prevents aggressive management, and the associated psychological impact.
Topics: Child; Choroid; Ganglioneuroma; Humans; Neurofibromatosis 1; Retinal Neoplasms; Retinoblastoma
PubMed: 35791167
DOI: 10.4103/ijo.IJO_3109_21 -
Cancer Aug 2020A primary objective of Children's Oncology Group study AREN0534 (Treatment for Patients With Multicentric or Bilaterally Predisposed, Unilateral Wilms Tumor) was to... (Clinical Trial)
Clinical Trial
BACKGROUND
A primary objective of Children's Oncology Group study AREN0534 (Treatment for Patients With Multicentric or Bilaterally Predisposed, Unilateral Wilms Tumor) was to facilitate partial nephrectomy in 25% of children with bilaterally predisposed unilateral tumors (Wilms tumor/aniridia/genitourinary anomalies/range of developmental delays [WAGR] syndrome; and multifocal and overgrowth syndromes). The purpose of this prospective study was to achieve excellent event-free survival (EFS) and overall survival (OS) while preserving renal tissue through preoperative chemotherapy, completing definitive surgery by 12 weeks from diagnosis, and modifying postoperative chemotherapy based on histologic response.
METHODS
The treating institution identified whether a predisposition syndrome existed. Patients underwent a central review of imaging studies through the biology and classification study AREN03B2 and then were eligible to enroll on AREN0534. Patients were treated with induction chemotherapy determined by localized or metastatic disease on imaging (and histology if a biopsy had been undertaken). Surgery was based on radiographic response at 6 or 12 weeks. Further chemotherapy was determined by histology. Patients who had stage III or IV disease with favorable histology received radiotherapy as well as those who had stage I through IV anaplasia.
RESULTS
In total, 34 patients were evaluable, including 13 males and 21 females with a mean age at diagnosis of 2.79 years (range, 0.49-8.78 years). The median follow-up was 4.49 years (range, 1.67-8.01 years). The underlying diagnosis included Beckwith-Wiedemann syndrome in 9 patients, hemihypertrophy in 9 patients, multicentric tumors in 10 patients, WAGR syndrome in 2 patients, a solitary kidney in 2 patients, Denys-Drash syndrome in 1 patient, and Simpson-Golabi-Behmel syndrome in 1 patient. The 4-year EFS and OS rates were 94% (95% CI, 85.2%-100%) and 100%, respectively. Two patients relapsed (1 tumor bed, 1 abdomen), and none had disease progression during induction. According to Response Evaluation Criteria in Solid Tumor 1.1 criteria, radiographic responses included a complete response in 2 patients, a partial response in 21 patients, stable disease in 11 patients, and progressive disease in 0 patients. Posttherapy histologic classification was low-risk in 13 patients (including the 2 complete responders), intermediate-risk in 15 patients, and high-risk in 6 patients (1 focal anaplasia and 5 blastemal subtype). Prenephrectomy chemotherapy facilitated renal preservation in 22 of 34 patients (65%).
CONCLUSIONS
A standardized approach of preoperative chemotherapy, surgical resection within 12 weeks, and histology-based postoperative chemotherapy results in excellent EFS, OS, and preservation of renal parenchyma.
Topics: Child; Child, Preschool; Combined Modality Therapy; Drug Therapy; Female; Humans; Infant; Kidney; Male; Neoplasm Metastasis; Nephrectomy; Progression-Free Survival; Treatment Outcome; WAGR Syndrome; Wilms Tumor
PubMed: 32459384
DOI: 10.1002/cncr.32958 -
Hormone Research in Paediatrics 2016Isolated hyperinsulinaemic hypoglycaemia (HH) commonly results from recessively inherited mutations in the ABCC8 and KCNJ11 genes that are located on chromosome 11p15.1....
BACKGROUND
Isolated hyperinsulinaemic hypoglycaemia (HH) commonly results from recessively inherited mutations in the ABCC8 and KCNJ11 genes that are located on chromosome 11p15.1. More rarely, HH can feature in patients with Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder, resulting from defects at a differentially methylated region telomeric to the K-ATP channel genes at chromosome 11p15.5.
SUBJECT
We undertook genetic testing in a patient with diazoxide-unresponsive HH diagnosed at birth. Physical examination later revealed hemihypertrophy of the right arm, a feature of BWS.
RESULTS
We identified a novel mosaic, paternally-inherited KCNJ11 mutation(s) in the patient. Further analysis confirmed uniparental disomy (UPD) of chromosome 11, which extended across the KCNJ11 gene at 11p15.1 and the BWS locus at 11p15.5.
CONCLUSION
These results highlight the importance of considering UPD as a mechanism of disease in patients with HH and a paternally inherited K-ATP channel mutation, especially when additional syndromic features are present.
Topics: Beckwith-Wiedemann Syndrome; Chromosomes, Human, Pair 11; Congenital Hyperinsulinism; Female; Genetic Loci; Humans; Male; Mosaicism; Mutation; Potassium Channels, Inwardly Rectifying; Uniparental Disomy
PubMed: 27173951
DOI: 10.1159/000446153 -
Plastic and Reconstructive Surgery.... Oct 2023Hemihypertrophy is a rare congenital disorder that causes unequal growth of the extremities, trunk, face, or half of the body. We report a case of a 32-year-old woman...
Hemihypertrophy is a rare congenital disorder that causes unequal growth of the extremities, trunk, face, or half of the body. We report a case of a 32-year-old woman with hemihypertrophy-related gastrocnemius hypertrophy treated with botulinum toxin A injection. The patient has received two botulinum toxin A injections, and we measured the thickness of the gastrocnemius muscle using ultrasound and measured the maximum circumference around the calf with the patient in the prone position. The patient's maximum calf circumference was reduced by 1 cm. The thickness of the medial head of the gastrocnemius was reduced by 0.3 cm, and the thickness of the lateral head of the gastrocnemius was reduced by 0.6 cm. Botulinum toxin A injection therapy was effective in treating hemihypertrophy-related gastrocnemius hypertrophy.
PubMed: 37908327
DOI: 10.1097/GOX.0000000000005356 -
Hormone Research in Paediatrics 2016
Topics: Congenital Hyperinsulinism; Female; Humans; Male; Mosaicism; Mutation; Potassium Channels, Inwardly Rectifying; Uniparental Disomy
PubMed: 27174046
DOI: 10.1159/000446477