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The rare incidence of PNH in children, its nonspecific clinical presentation, and occasional absence of hemoglobinuria make the diagnosis challenging. We present a case of a year-old boy who was hospitalized with a history of recurrent abdominal pain, fever, and dark-colored urine. Laboratory tests revealed anemia, thrombocytopenia, and elevated inflammatory markers.
Urinalysis was positive for protein and red blood cells, too many to be counted. Complement studies were within normal limits. Abdominal computed tomography toxin journal a segment of the small toxin journal with wall thickening and signs of possible microperforation.
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Exploratory laparotomy revealed necrosis of toxin journal small bowel, and histological evaluation was suggestive of an autoimmune process toxin journal small vessel vasculitis. Bone marrow biopsy showed hypocellular marrow with a decreased number of myeloid cells, normal number of megakaryocytes, and signs of erythroid hyperplasia.
The patient was treated with eculizumab infusions resulting in significant improvement.
This case highlights the need for high clinical suspicion for rare toxin journal such as PNH in patients presenting without toxin journal. Introduction PNH is a rare hematopoietic disorder that originates from an acquired genetic mutation in a multipotent toxin journal cell. It is characterized by an increased sensitivity of erythrocytes, to the hemolytic action of complement.
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Lack of complement inhibitors CD55 and CD59 on the blood cell surface is responsible for the clinical manifestations toxin journal the disease [ toxin journal ].
It affects both men and women equally.
Они оставили вагончик и долго разговаривали с Арчи. Семья собралась вместе, ожидая toxin journal. - Войска людей вновь высадились в Нью-Йорке, - сообщил Арчи. - Они разрушают самодельный люк, которым мы перекрыли ход в наше подземелье, и наверняка скоро обнаружат тоннели.
Clinical manifestations of PNH are nonspecific and toxin journal fatigue, abdominal pain, chest pain, renal insufficiency, and venous and arterial thrombosis.
Laboratory evaluation is significant for hemolytic anemia, hemoglobinuria, and signs of bone marrow failure.
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As the symptoms of PNH are intermittent and nonspecific, initial presentation may not yield the correct diagnosis and requires a high index of suspicion. Case Presentation A year-old Caucasian boy presented with several months of abdominal pain, fever, and dark-colored urine.
Three months prior toxin journal this admission, he was hospitalized with similar complaints of epigastric abdominal pain, associated with vomiting, and fever.
While laboratory studies indicated the presence of anemia and thrombocytopenia, urinalysis toxin journal too numerous to count red blood cells. Abdominal CT showed normal-appearing kidneys and thickening of the wall of the small bowel, cecum, and ascending colon.
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In the context of persistent pancytopenia, fatigue, gross hematuria, and abdominal pain, our initial differential diagnosis included acute toxin journal. Initial anemia was attributed to ongoing blood losses.
Thrombocytopenia was attributed to acute illness. Differential diagnosis also included inflammatory bowel disease with anemia of chronic disease, intestinal lymphoma, vasculitis, and leukemia. Clostridium difficile toxin was detected by PCR in his stool. The patient was diagnosed with infectious colitis toxin journal IgA nephropathy. Cystoscopy was not performed as bladder pathology was low on our differential diagnosis.
Paroxysmal Nocturnal Hemoglobinuria: Diagnostic Challenges in Pediatric Patient
He was treated with metronidazole and discharged. The patient's gross hematuria and abdominal pain resolved, but he continued to have fatigue, anemia, and thrombocytopenia. During his second presentation, the patient complained of severe abdominal pain, fever, and reappearance of dark-colored urine. He toxin journal a muscular teenage boy, with weight in the 84th percentile, height in the 95th percentile, and BMI in 95th percentile.
On physical examination, he appeared alert, oriented, and toxin journal moderate distress due to abdominal pain. His abdomen was nondistended, soft, with tenderness on palpation in the left lower quadrant. No hepatosplenomegaly or lymphadenopathy was noted on exam. Laboratory results showed a white blood cell count of 3.
Mean corpuscular volume noted to be Inflammatory markers were elevated, and C-reactive protein was Patient did not appear to be jaundiced on exam; however, his total bilirubin was elevated at 1.
Urine protein to creatinine ratio was normal at 0. His total bilirubin was 1.
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The direct Coombs test was negative. A repeat urinalysis showed urine of amber color and too numerous to count red blood toxin journal. Urine dipstick following microscopic urinalysis was performed. Microscopic urinalysis was positive for too numerous to count red blood cells.
Hemoglobin and myoglobin were not additionally toxin journal, as microscopic examination confirmed that there were too numerous to count red blood cells. Due to ongoing abdominal pain, a CT of the abdomen was performed, which revealed thickening of a segment of the small bowel wall and signs of possible microperforation Figure 1.
Due to worsening of abdominal pain, the onset of new peritoneal signs, and elevation of inflammatory markers, an exploratory laparotomy was performed.
Surgical exploration showed a necrotic segment of the jejunum, 45 cm of the mid-jejunum was toxin journal Figure 2. Histopathology report confirmed the presence of hemorrhage, necrosis of the resected segment, and acute inflammation of the intestine and mesentery with the presence of eosinophils.
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Clinical presentation and histological evaluation were consistent with an autoimmune process with small vessel vasculitis Figure 3. At this time, the differential diagnosis was broader and included polyarthritis nodosa, granulomatosis with polyangiitis, and eosinophilic granulomatosis with polyangiitis.
After surgery, the patient continued to have pancytopenia and gross hematuria. To further determine the etiology of pancytopenia and hematuria, the hematology, gastroenterology, and nephrology services were contacted.
The differential diagnosis was broad and included hematologic, rheumatologic, and neoplastic etiologies.