Afërdita Tako Kumaraku,Kristi Aleksi*,Aida Bushati,Armand Shehu,Blerina Saraçi,Renald Meçani,Paskal Cullufi
Issue:
Volume 2, Issue 2, June 2023
Pages:
8-11
Received:
7 April 2023
Accepted:
2 May 2023
Published:
17 May 2023
DOI:
10.11648/j.ijmcr.20230202.11
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Views:
Abstract: Neurofibromatosis type I is a multi-systemic disorder caused by variants in the neurofibromin, a gene on chromosome 17 that regulates a variety of cellular functions important for tumorigenesis. Clinically it is characterized by multiple café-au-lait spots, intertriginous freckling, neurofibromas, and learning disability or behavior problems. Neurofibromatosis type I is inherited in an autosomal dominant manner, but approximately half of those afflicted have the condition as a result of a de novo disease-causing variant. In this case series, we present 8 pediatric patients at Mother Teresa University Hospital Center in Tirana, Albania whose genetic diagnosis was confirmed by Whole exome sequencing including Next-generation sequencing-based Copy number variation analysis. Based on our clinical findings, they all meet the revised clinical diagnostic criteria of Neurofibromatosis type I by the International Consensus Conference held in 2021. In 5 of them, the variant was inherited from one of the parents, while in the remaining 3 the variant was de novo. Herein we discuss each genotype detected, the coordinates, class, and the modifications they induce in the neurofibromin protein. We also discuss our patients’ phenotypes; the cases of two pairs of siblings with identical inherited variants but with different clinical manifestations caught our interest, but studies confirm that the phenotype varies even among individuals with identical variants. In the end, identifying the signs and symptoms early and with certainty and rapidly assigning the cases to qualified healthcare professionals is important for patients with neurofibromatosis type I.Abstract: Neurofibromatosis type I is a multi-systemic disorder caused by variants in the neurofibromin, a gene on chromosome 17 that regulates a variety of cellular functions important for tumorigenesis. Clinically it is characterized by multiple café-au-lait spots, intertriginous freckling, neurofibromas, and learning disability or behavior problems. Neuro...Show More
Abstract: Background: Ambiguous genitalia represent a sequel of sexual development disorders where the external genitalia don’t have a typical resemblance to that of male or female. Methods: This was a female case of ambiguous genitalia, her age was twenty-eight years, ultrasound examination revealed atrophied uterus and bilateral undescended testes. She complained of gradual size increase of her left testicle in the last 6 months. Due to sudden trauma, she developed severe pain and swelling in her left groin. On examination: patient looked unwell, in pain, afebrile, locally there was swelling about 10 cm in size with shiny and red looking, it was very tender, otherwise it was unremarkable. So, this was considered as a case of left testicular trauma that need urgent left groin exploration. The patient was counselled and consented about possible orchidectomy. Intra-operative note: under spinal anesthesia patient was put on supine position, skin painted by yamidin, left inguinal incision was made and hematoma was evacuated, the left testicle was found to be hugely enlarged and ruptured. The spermatic cord was clamped and orchidectomy was done. No intra operative complications. Result: Histological examination of the testicular specimen confirmed that it was a germ cell tumor [Seminoma]. Patient was recommended to for: (1) Chemotherapy at the Oncology Department, (2) Laparoscopic search for her right undescended testis to confirm whether it is a testis or an ovary, (3) Buccal biopsy for sex determination and (4) Surgery, for the right side, if needed. Conclusion and recommendation: Neglected cases of undescended testis may have a serious outcome. Screening for ambiguous genitalia, and early exploration and management was highly recommended.Abstract: Background: Ambiguous genitalia represent a sequel of sexual development disorders where the external genitalia don’t have a typical resemblance to that of male or female. Methods: This was a female case of ambiguous genitalia, her age was twenty-eight years, ultrasound examination revealed atrophied uterus and bilateral undescended testes. She com...Show More
