scholarly journals Rapidly Progressing Early Puberty in a Boy with Bilateral Basal Ganglia Germinoma and TREX1 Variant

2020 ◽  
Vol 30 (6) ◽  
Author(s):  
Jihyun Ha ◽  
Seonkyeong Rhie ◽  
Kyu Young Chae ◽  
Eun-Gyong Yoo ◽  
Hye Jeong Choi ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Rare Case ◽  
Elevated Serum ◽  
Tanner Stage ◽  
Bone Age ◽  
Early Puberty ◽  
Laboratory Findings ◽  
Case Presentation ◽  
Genital Development ◽  
Exonuclease 1

Introduction: Organic lesions, including brain tumors, should be suspected in boys with precocious puberty. However, it is not usually suspected in children with early puberty. Case Presentation: Here we present an extremely rare case of rapidly progressing early puberty with basal ganglia germinoma coupled with three-prime repair exonuclease 1 (TREX1) variant. This was a 10-year-old-boy with borderline mental retardation and rapidly progressing puberty. Physical examination revealed 10 mL testes (Tanner stage 3 for genital development), and his bone age was that of a 12-year old boy. Laboratory findings showed abnormally elevated serum β-human chorionic gonadotropin (23.0 mIU/mL; reference, 0-10 mIU/mL), and suppressed LH level (

scholarly journals Eosinophilic ascites due to severe eosinophilic ileitis

CytoJournal ◽  
2010 ◽  
Vol 7 ◽  
pp. 19 ◽  
Author(s):  
Namrata Setia ◽  
Peter Ghobrial ◽  
Pantanowitz Liron
Keyword(s):  
Peritoneal Fluid ◽  
Complete Resolution ◽  
Rare Case ◽  
Eosinophilic Gastroenteritis ◽  
Laboratory Findings ◽  
Case Presentation ◽  
Eosinophilic Ascites

Background: There is a broad etiology for effusion eosinophilia that includes allergic, reactive, infectious, immune, neoplastic, and idiopathic causes. We report and describe the cytomorphologic findings of a rare case of eosinophilic ascites due to severe eosinophilic ileitis. Case Presentation: A 17-year-old male manifested acutely with eosinophilic ascites due to severe biopsy-proven subserosal eosinophilic ileitis. Isolated peritoneal fluid submitted for cytologic evaluation revealed that 65% eosinophils were present in a bloody background. The patient responded to corticosteroids, with complete resolution of his ascites. Conclusion: Eosinophilic gastroenteritis with subserosal involvement should be added to the list of causes for eosinophils in peritoneal fluid. The finding of eosinophilic ascites, with appropriate clinical and laboratory findings, may warrant the need to perform laparoscopic intestinal biopsies to confirm the diagnosis.

Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence

2020 ◽  
Vol 33 (11) ◽  
pp. 1475-1479
Author(s):  
Elpis-Athina Vlachopapadopoulou ◽  
Elli Anagnostou ◽  
Eirini Dikaiakou ◽  
Patrick Hanna ◽  
Maria Tsolia ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Rare Case ◽  
Vitamin D Insufficiency ◽  
Molecular Defect ◽  
Laboratory Findings ◽  
Case Presentation ◽  
Dysmorphic Features ◽  
Laboratory Investigations ◽  
Peculiar Case ◽  
High Phosphate

AbstractObjectivesThe objective of this paper is to report a peculiar case of a patient with pseudohypoparathyroidism type 1b (PHP1B). Pseudohypoparathyroidism (PHP) refers to a group of disorders characterized by hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) concentrations as the result of end-organ unresponsiveness to PTH.Case presentationWe present a 14-year-old boy, who was admitted with severe symptomatic hypocalcaemia, absence of dysmorphic features and Albright's hereditary osteodystrophy features. Laboratory investigations revealed markedly low serum calcium, high phosphate, markedly elevated PTH levels and vitamin D insufficiency, while magnesium, albumin, ALP and TSH were normal. The clinical and laboratory findings were consistent with PHP1B. Molecular analysis revealed loss of methylation at the AB DMR of the GNAS locus, confirming the diagnosis. Yet no STX16 deletion was detected.ConclusionsIt is possible that delSTX16- patients carry a defect in an element that controls the methylation both at the GNAS-A/B DMR and at the GNAS-AS2. This rare case emphasizes the need of individualized molecular analysis in PHP1B patients in order to elucidate the possible molecular defect.

scholarly journals Neglected congenital adrenal hyperplasia presenting as recurrent abdominal pain

2020 ◽  
Vol 8 (2) ◽  
pp. 45-46
Author(s):  
Isaac Oludare Oluwayemi ◽  
Oyebanji AH ◽  
Omowaye MT
Keyword(s):  
Abdominal Pain ◽  
Congenital Adrenal Hyperplasia ◽  
Elevated Serum ◽  
Lower Abdominal Pain ◽  
Autosomal Recessive Disorder ◽  
Tanner Stage ◽  
Bone Age ◽  
Urogenital Sinus ◽  
Normal Female ◽  
Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with the incidence of the classic type being 1:15,000 births worldwide. It results from defective synthesis of steroid hormones because of deficiency of one of the five enzymes required for synthesis of cortisol. Cases of severe forms of CAH are often missed in developing countries where there is no program for newborn screening with many of them dying in neonatal periods. Management of the mild forms are also hindered or delayed because of superstitions, ignorance and poverty. We present an 11years old girl who presented with abnormal genital since birth and recurrent monthly lower abdominal pain of eight month duration. She had Tanner stage 4 breasts, normal female pubic hair distribution, clitoromegaly, fused scrotalized labia with urogenital sinus and absent vaginal opening. Abdominal ultrasound showed normal female reproductive organs; she had advanced bone age of 16years and elevated serum 17-hydroxyprogesterone level. She’s being worked up for possible genitoplasty.

scholarly journals Precocious puberty in a 24 month old Nigerian girl: case report

2020 ◽  
Vol 47 (4) ◽  
pp. 358-360
Author(s):  
I.O. Oluwayemi ◽  
A.A. Afolabi ◽  
E.O. Adeniji ◽  
T.O. Ayeni
Keyword(s):  
Precocious Puberty ◽  
Elevated Serum ◽  
Tanner Stage ◽  
Bone Age ◽  
Pubic Hair ◽  
Breast Development ◽  
Endocrine Disorders ◽  
Essentially Normal ◽  
History Of ◽  
Age And Sex

Precocious puberty refers to the appearance of signs of puberty at an earlier age than is considered normal. It occurs ten times more commonly in  girls than in boys. The overall incidence ranged from 1/5000 to 1/10,000 children. The cause is idiopathic in 90% of cases of female precocious  puberty. We present BA a 24 month old female toddler who presented with one year history of progressive breast development and 6 month history of pubic hair growth. There was associated increasing weight, height and vaginal secretion. There was no similar occurrence in the family. Mother attained menarche at 14 years of age. Essential finding at presentation revealed a toddler who is heavy and tall for age with a weight of 17kg (>95th percentile for age and sex), height of 90.5cm (90th percentile for age and sex), Occipito-frontal circumference of 49cm (normal). Her sexual maturityrating was Tanner stage 3 for breasts and stage 2 for pubic hair. An assessment of precocious puberty was made. Her investigation result showed an advanced bone age of 5 years; elevated serum gonadotrophins in the pubertal range; and essentially normal cranial CT. Abdomino-pelvic USS showed an enlarged uterus for age, and a dominant right follicle with internal echo measuring 17.1mm X 15.2mm. Parents were counseled on the need for treatment to arrest the progression of precocious puberty but yet to respond because of financial constraint after 2 years of diagnosis. Female precocious puberty is ten times more common than male precocious puberty. The aetiology is idiopathic in 90% of cases and It is amenable to treatment. Integration of the investigation and treatment of childhood endocrine disorders into the National Health Insurance scheme will be a great panacea to the challenge of prompt management in developing countries. Keywords: Precocious, puberty, 24 months old, female, idiopathic, poverty, Nigeria 

scholarly journals A case of sigmoid volvulus in an unexpected demographic

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Mohammad Saba ◽  
Joshua Rosenberg ◽  
Gregory Wu ◽  
Gudata Hinika
Keyword(s):  
Abdominal Pain ◽  
Severe Pain ◽  
Rare Case ◽  
Young Female ◽  
Sigmoid Volvulus ◽  
Case Presentation ◽  
Operative Complications ◽  
History Of ◽  
Male Sex ◽  
Emergent Laparotomy

Abstract Background A sigmoid volvulus occurs when a segment of the colon twists upon its mesentery. This infliction is associated with old age, multiple co-morbidities, and the male sex. We present a rare case of sigmoid volvulus that occurred in a healthy young female. Case presentation A 28-year-old female presented with a one week history of constipation and abdominal pain. Her symptoms suddenly worsened and became associated with vomiting and severe pain. A focused history taking and physical examination showed peritoneal signs that led to timely diagnostic imaging to be implemented. Computed tomography (CT) of the abdomen was consistent with sigmoid volvulus. Our patient underwent emergent laparotomy with a sigmoidectomy and recovered with no post-operative complications. Conclusion This case report emphasizes the importance of clinicians maintaining a sigmoid volvulus as a rare, yet important differential when approaching abdominal pain in young healthy patients.

scholarly journals A rare case of Pseudomonas aeruginosa bacteremia in a newborn with 58 perforations in the small intestine

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yuanyuan Xu ◽  
Danqun Jin ◽  
Huan Ye ◽  
Youfeng Liang
Keyword(s):  
Pseudomonas Aeruginosa ◽  
Small Intestine ◽  
Early Detection ◽  
Abdominal Surgery ◽  
Rare Case ◽  
Venous Blood ◽  
Case Presentation ◽  
Systemic Infections ◽  
Emergency Abdominal Surgery ◽  
Timely Treatment

Abstract Background Community-acquired infections of Pseudomonas aeruginosa (P. aeruginosa) occur very rarely. Case presentation P. aeruginos was detected in cultures of venous blood and peritoneal exudate of a newborn with 58 perforations in the small intestine. Intravenous administration of imipenem cilastratin sodium and emergency abdominal surgery were performed. The patient fully recovered and was discharged 17 days after the operation. Conclusions Mild symptoms of systemic infections in newborns may delay the diagnosis. Early detection and timely treatment are the key to improved prognosis.

scholarly journals Left-Sided Bochdalek's Hernia in a Young Adult: A Case Report and Literature Review

2021 ◽  
Vol 07 (03) ◽  
pp. e124-e126
Author(s):  
Mark Portelli ◽  
Mark Bugeja ◽  
Charles Cini
Keyword(s):  
Computed Tomography ◽  
Young Adult ◽  
Rare Case ◽  
Surgical Repair ◽  
Bochdalek Hernia ◽  
Case Presentation ◽  
Atypical Case ◽  
Accident And Emergency ◽  
History Of ◽  
Accident And Emergency Department

Abstract Purpose Bochdalek's hernia is a type of congenital diaphragmatic hernia occurring secondary to a defect in the posterior attachment of diaphragm. This condition commonly presents with respiratory insufficiency in infants. To date, there are less than 100 cases of Bochdalek's hernia presenting in adults published in the literature. The mainstay treatment of Bochdalek's hernia involves reduction of hernial contents back into the peritoneal cavity with a tensionless graft repair closing the diaphragmatic defect. Case Presentation We present an atypical case of the Bochdalek hernia presenting in a previously healthy 16-year-old male who presented to the Accident and Emergency department with a 2-day history of dysphagia and loss of breath. The Bochdalek hernia was confirmed on computed tomography (CT) imaging and the patient underwent surgical repair with Gore-Tex mesh. Conclusion The report shows a rare case of the Bochdalek hernia in a young adult, successfully managed with a laparotomy.

scholarly journals Cutaneous mucinosis of infancy: a rare case of joint involvement

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Cristina Morreale ◽  
Dario Bleidl ◽  
Angela Rita Sementa ◽  
Clara Malattia
Keyword(s):  
Rare Case ◽  
Steroid Injection ◽  
Left Knee ◽  
Joint Involvement ◽  
Normal Range ◽  
Reticular Dermis ◽  
Case Presentation ◽  
Left Elbow ◽  
Inflammatory Drugs ◽  
One Year

Abstract Background Primary cutaneous mucinosis are a heterogeneous group of diseases characterized by the deposition of glycosaminoglycans in the dermis and the follicles. These diseases are rare in children therefore their diagnosis and management are still challenging. Joint involvement has been reported in patients with secondary cutaneous mucinosis and, rarely, in primary mucinosis. We describe a case of Cutaneous Mucinosis of Infancy with joint involvement. Case presentation An healthy 5-year-old boy showed acute arthritis of the left knee and left elbow confirmed by ultrasound. Laboratory tests were within normal range. Symptoms disappeared after a course of nonsteroid anti-inflammatory drugs. One year later, the knee swelling reappeared; juvenile idiopathic arthritis was diagnosed and intra-articular steroid injection was performed. Due to persistence of arthritis of the knee he was admitted to our hospital. On physical examination variable skin-colored lesions were observed, which had been in existence for over 2 years. We performed a skin biopsy that showed an interstitial mucine deposition in the reticular dermis. Cutaneous Mucinosis of Infancy was diagnosed. Discussion and conclusions Cutaneous Mucinosis of Infancy is a persistent dermatosis with benign prognosis and no treatment is generally required. Our case report is particularly interesting because it is the first in which joint involvement has been reported in CMI, a disorder that has so far been described as limited to skin involvement. Further studies will be necessary in order to clarify the pathogenesis of joint involvement in primary mucinosis.

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