Testicular torsion

Vignette says a 21 year old male presents to the emergency department with a sudden onset of severe testicular pain, that started 6 hours ago while playing basketball; The pain is sudden in onset, severe in intensity and localized to the right testicle; He also reports nausea but no vomiting; Genital examination shows swollen, erythematous and tender right sided scrotum; Cremasteric reflex is absent; Vital signs show blood pressure of 110/80 mm of Hg, pulse rate of 88 bpm, respiratory rate of 16 breaths/min, oxygen saturation of 98% in RA and temperature of 96.7F; He has no significant medical or surgical history; Doppler ultrasonography shows absence of testicular blood flow; Diagnosis?

Diagnosis is testicular torsion.

Presents with acute onset severe testicular pain along with swollen, erythematous scrotum; Associated with congenital inadequate fixation of testis to tunica vaginalis → horizontal positioning of testes (“bell clapper” deformity); Prehn sign is negative (i.e. failure to relieve pain upon lifting the scrotum) and cremasteric reflex is absent (i.e. failure of the scrotal skin to retract upon palpation of the medial thigh).

Diagnosis:-

1. Doppler ultrasonography shows absence of testicular blood flow.

Management:-

1. Surgical detorsion and fixation (orchiopexy) within 6 hours; Manual detorsion (if immediate surgery is not available.

2. Orchiectomy (if testis is not viable).

Osteopetrosis

Vignette says a 7 year old male child presents to pediatrician with chief complaints frequent bone fractures, recurrent infections and visual impairment; His mother also reports that he has had multiple fractures, even with minimal trauma over the past few years; His mother also reports that he has had several episodes of pneumonia and ear infections requiring hospitalizations in the past; Examination shows pale conjunctiva, macrocephaly with frontal bossing and hepatosplenomegaly; Neurological examination shows decreased visual acuity and decreased hearing; Complete blood count (CBC) shows pancytopenia; X-ray shows diffuse osteosclerosis; Bone marrow biopsy shows dense, sclerotic bone with little marrow space; Diagnosis?

Diagnosis is Osteopetrosis.

Osteopetrosis (also known as "marble bone disease"), is a genetic disorder characterized by defective osteoclast function leading to impaired bone resorption and the accumulation of abnormally dense bones.

Pathophysiology:- Deficiency of carbonic anhydrase → failure to resorb bone by osteoclasts (i.e. poor osteoclast function due to type II carbonic anhydrase deficiency). 

Clinical features:- 
1. Thick bones which fracture easily (i.e. pathologic fractures).
2. Vision and hearing impairment.
3. CN deficits and hydrocephalus (due to narrowing of foramen in the brain).
4. Type II RTA (i.e. proximal RTA).
5. Pancytopenia and hepatosplenomegaly (due to bone expansion leading to bone marrow narrowing and extramedullary hematopoiesis).

Diagnosis:- 
1. CBC shows pancytopenia.
2. X-ray shows diffuse osteosclerosis (aka “marble bone disease”). 
3. Elevated tartrate-resistant acid phosphatase (TRAP). 
4. Genetic testing shows mutation in the CLCN7 or TCIRG1 gene.
5. Bone marrow biopsy shows dense, sclerotic bone with little marrow space.

Management:- 
1. Supportive measures include pain management, physical therapy, and management of recurrent infections.
2. Calcium and vitamin D supplementation.
3. Erythropoietin or blood transfusions for anemia.
4. IFN-gamma (activates osteoclasts). 
5. Bone marrow transplantation is the only curative treatment.

Spontaneous bacterial peritonitis

Vignette says a 55 year old male with a history of cirrhosis and ascites due to chronic alcohol use presents to the emergency department with chief complaints of diffuse abdominal pain, vomiting, and a mild low grade fever over the past two days; He also reports of fatigue and increasing confusion; Vital signs show blood pressure of 100/60 mm of Hg, pulse rate of 108 bpm, respiratory rate of 18 breaths/min, oxygen saturation of 92% in RA and temperature of 100.2 F; Abdominal examination shows distended abdomen with shifting dullness, mild diffuse tenderness, and hypoactive bowel sounds on auscultation; CBC shows WBC count of 14,000 cells/mm3, serum creatinine of 1.8 mg/dL (normal range is 0.7mg/dL-1.3mg/dL), serum albumin of 2.1g/dL (normal range is 3.5-5.5 g/dL); Paracentesis with ascitic fluid absolute neutrophil count is 380 cells/mm3; Diagnosis?

Diagnosis is Spontaneous bacterial peritonitis (SBP).

Spontaneous bacterial peritonitis (SBP) is defined as the infection of the ascitic fluid.

Presents with fever, diffuse abdominal pain in patients with liver cirrhosis along with ascitic fluid absolute neutrophil count (ANC) > 250 cells/mm3.

Etiologic agents are Escherichia coli (most common), Klebsiella, Streptococcus pneumoniae.

Diagnosis:-

1. Paracentesis with ascitic fluid absolute neutrophil count (ANC) > 250 cells/mm3.

2. Gram staining and culture of the ascitic fluid.

Management:-

1. 3rd generation cephalosporins (e.g. cefotaxime, ceftriaxone).

2. Albumin infusion to prevent kidney failure.

3. Prophylactic ciprofloxacin or trimethoprim/sulfamethoxazole is used to prevent SBP if ascitic fluid albumin is low.