Mcnallysauer5711
Marfan syndrome is an autosomal dominant, multi-systemic connective tissue di sorder of different presentations. Dural ectasia is a common, but little known complication that can be associated with intracranial hypotension syndrome (IHS).
To present a case of severe headache secondary to IHS in order to warn about this rare complication, which must be considered in children carriers of connective tissue diseases, especially Marfan syndrome.
13-year- old female carrier of Marfan syndrome, clinically diagnosed according to the 2010 Ghent criteria, who consulted due to a 6-months history of severe orthostatic headache. Head magnetic resonance imaging (MRI) showed multiple signs of intracranial hypotension, while whole-spine MRI showed dural ectasia that caused the thecal sac dilation and subsequent remodeling of vertebral bodies, es pecially the sacral ones. Treatment with an autologous epidural blood patch was administered with good clinical response.
Dural ectasia, frequent in Marfan syndrome, is a predisposing cause of cerebrospinal fluid (CSF) leakage, which could cause orthostatic headache secondary to IHS.
Dural ectasia, frequent in Marfan syndrome, is a predisposing cause of cerebrospinal fluid (CSF) leakage, which could cause orthostatic headache secondary to IHS.
The IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syn drome is caused by the mutations of the FOXP3 gene, characterized by persistent diarrhea, endo crine disorders, and dermatitis. The treatment is the administration of immunosuppressive drugs, where hematopoietic stem cell transplantation is the only potential cure.
To describe a new FOXP3 gene mutation, as well as the findings and evolution of a patient with IPEX syndrome.
Male infant presenting at one month of age with chronic diarrhea, intestinal failure, and recurrent infections. Lab tests and intestinal biopsy suggested autoimmune enteropathy. During follow-up, the patient presented resistance to immunosuppressive treatment with corticosteroids, cyclosporine, and tacrolimus, dying at 7 months of age due to vascular complications. He had a ma ternal family history of multiple deaths of men under 1 year of age. IPEX syndrome was suspected therefore a trio whole-exome sequencing was performed that showed a probably pathogenic FOXP3 gene mutation.
A new FOXP3 gene mutation is reported in a patient with IPEX syndro me. Despite the low prevalence of this disease, it is important to recognize non-specific but suggestive symptoms for its diagnosis.
A new FOXP3 gene mutation is reported in a patient with IPEX syndro me. Despite the low prevalence of this disease, it is important to recognize non-specific but suggestive symptoms for its diagnosis.
Imperforated hymen is the most frequent congenital malformation of the female genital tract. Most cases are not investigated in childhood, due to an insufficient genital examination. Its diagnosis and resolution must be early and definitive to avoid subsequent complications.
A clinical case of an infant with imperforated himen is presented. To update on genital examination technique necessary to detect this pathology in the newborn and infants, and the proper treatment.
3-months-old infant that consulted due to an increase in bulging volume in the introitus area. In the physical examination, the Valsalva's maneuver was performed allowed the ex pulsion of a homogeneous pearly mass with a smooth surface, between the labia majora, suggesting imperforate hymen. The study was complemented with gynecological ultrasound, which demons trated the presence of hydrocolpos, ruling out other anomalies. A hymenotomy was performed, which allowed for the evacuation of abundant serous material, with no bad smell, and then the hymenectomy was completed by resection of the hymenal membrane. In follow-up monitoring 4 months after the intervention, a widely permeable hymen was found.
Neonatal care teams require training on the correct technique of external genital examination of the newborn and infant. Hymenectomy is the technique that allows definitely resolving the condition, avoiding complications.
Neonatal care teams require training on the correct technique of external genital examination of the newborn and infant. Hymenectomy is the technique that allows definitely resolving the condition, avoiding complications.
Infantile nystagmus is an infrequent condition that represents a diagnostic challenge for the pediatri cian. Albinism is one of its main causes, being difficult to suspect in the absence of evident cutaneous involvement, especially in female patients, due to the inheritance type of ocular albinism. Objec tive To describe a case of nystagmus secondary to albinism with isolated ocular involvement in a female patient, in order to provide tools for pediatric approach and diagnosis.
Three- weeks-old female patient, without morbid history, referred to a pediatric neurosurgeon and ophthal mologist due to paroxysmal eye movements since 2 weeks of age. The electroencephalogram and brain images were normal. In follow-up monitoring at 3 months, iris translucency, nystagmus, and hypermetropic astigmatism were confirmed. Dermatologic evaluation ruled out cutaneous invol vement. The patient developed cephalic downward inclination and coordination development de lay was confirmed, the patient was handled with corrective lenses and kinesiotherapy. In follow-up monitoring at 3 years, there was an improvement in visual acuity, decreased nystagmus and normal neurodevelopment. The ophthalmological evaluation of both parents was normal and there was no history of nystagmus or albinism in the family. Inhibitor Library Upon her parents' decision, no genetic study was ca rried out.
The diagnosis of nystagmus secondary to ocular albinism, even in the absence of cutaneous involvement, is clinical. The genetic study allows confirming the etiology, without being an essential examination, unless family planning is considered. Timely research and multidisciplinary intervention determine a better prognosis.
The diagnosis of nystagmus secondary to ocular albinism, even in the absence of cutaneous involvement, is clinical. The genetic study allows confirming the etiology, without being an essential examination, unless family planning is considered. Timely research and multidisciplinary intervention determine a better prognosis.
