Introduction: Abdominal pain is a common presenting symptom in diabetic ketoacidosis (DKA). Correction of the acidosis usually leads to resolution of the abdominal pain. In some instances, the pain may persist due to additional etiologies presenting alongside DKA. Though uncommon, there has been shown to be an association between DKA and acute pancreatitis (AP). In these rare cases, AP was secondary to the hypertriglyceridemia (HTG) state induced by DKA. We report a 13-year-old female known with type 1 diabetes (T1D) who presented with multiple concomitant episodes of DKA and AP and normal triglyceride levels. Case Presentation: The patient is a 13-year-old female with T1D who presented with two days of hyperglycemia, nausea, and diffuse abdominal pain. Initial laboratory evaluation was remarkable for point-of-care glucose of >500 mg/dL (60-99), venous pH of 7.006 (7.330-7.430), bicarbonate of < 5 mmol/L (20-28), beta-hydroxybutyrate of 5.6 mmol/L (0.0-0.8); consistent with severe DKA. She received normal saline bolus fluids and then started on the DKA protocol with improvement of acidosis, though with the persistence of abdominal pain. Due to concern for other causes of her abdominal pain, additional workup was done, notable for elevated lipase of 624 U/L (10-52), amylase of 434 U/L (25-100), and triglyceride of 121 mg/dL (30-149). An abdominal ultrasound showed findings consistent with AP, lipase levels peaked at 1753 U/L before down-trending to 959 U/L, and amylase decreased to 389 U/L. After several days abdominal pain resolved, and the patient was discharged home. The patient was readmitted six weeks and again one year later for laboratory and symptoms, including abdominal pain consistent with DKA. Both lipase and amylase were elevated during both admissions with normal triglyceride levels. Magnetic resonance cholangiopancreatography was significant for findings compatible with acute pancreatitis with no evidence of cholelithiasis or choledocholithiasis. The patient underwent genetic testing, including normal PRSS1, SPINK1, CFTR, CPA1, and CTRC. A variant of unknown clinical significance was identified in the CTRC gene (c.550G>A), which was not thought to be the cause of her recurrent pancreatitis. Interestingly, since her hemoglobin A1c has been in a better range for the past year, she did not have any recurrent episodes of pancreatitis. Conclusion: The insulin-deficient state associated with DKA can lead to moderate to severe HTG, which in turn can cause AP. Even though abdominal pain is a common symptom in patients presenting in DKA, one should think about other causes when the abdominal discomfort is out of proportion or not improving as acidosis resolves. Our patient had recurrent pancreatitis for unknown etiology; however, she has not had any pancreatitis episodes in the last year since her diabetes has been under better control.
Introduction: Adrenocortical tumors (ACTs) are rare in the pediatric population compared to the adults, with an incidence of 0.3-0.5 cases per million child-years. Most ACTs are sporadic, but some occur as a component of hereditary cancer syndrome. We report a case of a 16 year old male with single unilateral adrenocortical tumor that was found to secrete cortisol and aldosterone. Case Presentation: 16-year-old male previously healthy, presented to nephrology for elevated blood pressure (BP) and microscopic hematuria evaluation. He was otherwise asymptomatic. Manual BP was noted to be 156/84 mmHg and physical exam was within normal limits. Laboratory evaluation revealed a normal comprehensive metabolic panel. Echocardiography was notable for moderate left ventricular hypertrophy, and a renal ultrasound revealed a heterogeneous solid right adrenal mass which measured 5.6 x 4.5 cm. Adrenal MRI showed a well-defined round 5.7 x 5.0 x 5.2 cm right adrenal mass with heterogeneously T1 isointense and T2 hyperintensity, with no evidence of vascular invasion. The left adrenal gland was normal. Additional workup was notable for an aldosterone level of 18.4 ng/dL (4.0-31.0 ng/dL), plasma renin activity 0.2 ng/ml/h (<6), and elevated aldosterone to renin ratio of 92. The morning cortisol level of 7.7 ug/dL (6.7-22.6), with a 24-urine cortisol level elevated at 70.2 ug/d (<56.0). Low dose and high dose Dexamethasone suppression tests were performed, and the morning cortisol was not suppressed, pointing more towards hypercortisolism from the adrenal gland. ACTH levels were found to be suppressed as well. Due to concerns of possible adrenal crisis during or after surgery, the patient was started on stress dose steroids and then tapered off after several weeks. Patient underwent laparoscopic removal of the mass and right adrenal gland with uncomplicated postsurgey period. Pathology showed an adrenal cortical tumor 6 cm/68gm, indeterminate for malignancy versus benign. Extensive genetic studies revealed that patient was heterozygous for the p.N560(c/1679A>T) variant of unknown significance in the MSH2 gene. His blood pressure continued to remain elevated after surgery, and he was started on lisinopril with minimal improvement. The patient is currently doing well, and his blood pressure is better controlled now with amlodipine. He is undergoing surveillance with laboratory evaluation and imagining every 3-6 months. Discussion: ACTs are extremely rare in pediatric patients. Their presentation might be variable, and even when they are found incidentally, it is crucial to assess for hormonal secretion. Although our patient had no signs of hypercortisolism on physical exam, his ACT was secreting both cortisol and aldosterone. In this case report, we demonstrated a rare case of unilateral ACT causing hyperaldosteronism and hypercortisolism with persistent hypertension following adrenalectomy.
Introduction: Thyroid nodules are less common among children than adults but are more likely to be malignant. Among all the thyroid nodules, autonomous functioning thyroid nodules (AFTN) are generally considered to be a benign entity, with malignancy found in less than 1 %. AFTN are very rare in the pediatric population, and the optimal treatment is not well defined. We present a 14-year-old female patient with an AFTN treated with surgical resection and found to contain papillary thyroid carcinoma, despite a previous biopsy which did not demonstrate malignancy. Case presentation: A 14-year-old girl presented with left-sided palpable thyroid lesion for four months. The patient had no symptoms at that time, and the physical exam was notable for a palpable left thyroid nodule measuring 3x 2.2 cm. Thyroid studies were remarkable for a suppressed thyroid-stimulating hormone (TSH) of 0.056uIU/mL (0.350–4.94), normal free thyroxine (FT4): 1.1 ng/dL (0.7–1.5), and positive anti-thyroglobulin antibodies: 9.0 IU/ml (0.0 - 4.1) with negative anti peroxidase antibodies and negative thyroid-stimulating immunoglobulin. Initial ultrasound (US) showed a left complex cystic and solid nodule measuring 3.4 cm x 1.8 cm x 2.3 cm. Fine needle aspiration (FNA) of the nodule revealed a benign aspirate. An I-123 scan revealed a hyperfunctioning nodule with suppression of uptake in surrounding thyroid parenchyma. The patient was then lost to follow up, presenting to our clinic over a year later due to difficulty breathing when supine and increased nodule size. Thyroid studies were notable for a suppressed TSH of 0.005 and slightly elevated FT4:1.8. Thyroid US showed a mixed cystic and solid nodule measuring 4.7 x3 x 4cm, with no calcification. Given the increased size of the lesion, her age, and difficulty breathing when supine, a decision was made to proceed with left hemithyroidectomy for definitive diagnosis and treatment. Pathology of the specimen revealed an encapsulated papillary thyroid carcinoma with focal capsular invasion. Right hemithyroidectomy was performed three weeks later, followed by I-131 ablation one month after surgery. The patient is currently doing well and euthyroid on thyroid hormone replacement therapy, with no evidence of disease. She is undergoing surveillance with ultrasound imaging and laboratory evaluation. Conclusion: This is a rare case of AFTN harboring papillary thyroid carcinoma. Although the majority of cases of AFTN are benign, an FNA was performed and was negative for malignancy. Due to an increase in size, new symptoms and ultrasound changes, surgery was performed and revealed the final diagnosis. The behavior of thyroid nodules in pediatric patients can be different than adult patients. Even though the majority of AFTN are benign, we should still keep malignancy in our differential when the nodule has a growth pattern, new US findings or patient develops worsening symptoms.
Background We report a case of CDI due to craniopharyngioma resection that became refractory to oral DDAVP after recurrence of tumor and subsequent surgical removal. Due to inability of patient to use the intranasal route, subcutaneous (SC) DDAVP was used successfully. Clinical Case An 11-year male developed CDI after craniopharyngioma removal and proton beam therapy. He developed also panhypopituitarism, hypothalamic obesity, and had an impaired thirst mechanism. CDI was managed with oral DDAVP and fix fluid intake. After 2 years he had a tumor recurrence and a surgical removal complicated by a stroke. Since then his DDAVP dose had to be increased progressively due to poor CDI control. He presented to our hospital with severe hypernatremia and a urine output of 4-5 liters a day. DDAVP dose was eventually titrated up to 800 mcg bid. He was placed on minimum fluid intake of 3 Liters a day. Even with this dose he was putting out 4 liters of urine daily. Intranasal DDAVP was not considered due to poor cooperation of patient and nasal mucosa scarring. SC DDAVP was started at a dose of 1 mcg (0.01 mcg/Kg) twice a day.Dose increments were made by 0.5 mcg every 2 days to avoid hyponatremia. Prior to therapy patient received 4 liters/day and was progressively decreased, as DDAVP dose was increased, to 1.7 liters/day. Patient was discharged home on 4.5 mcg in the morning and 5.5 mcg at night time (0.14 mcg/kg/day). Discussion The route of administration of DDAVP varies depending on the age and cooperation of the patient to use the different forms available. DDAVP has also haemostatic effect. It is used in the treatment or to prevent bleeding in patients with von Willebrand disease, haemophilia A and platelet function defects. We hypothesize that our patient became resistant to the action of oral DDAVP probably due to the development of antibodies that were interfering with the appropriate absorption from the gastrointestinal tract. The parenteral/SC route dose ranges from 0.1-1 mcg in one or two divided doses nevertheless our patient had a stroke and we were concerned about the maximum dose that it could be used without increasing the risk of causing a new thrombotic event. With no data available about the use of DDAVP in this specific setting, we decided to use as a limit the dose used to treat bleeding disorders (0.3 mcg/Kg).Since our patient had basically an adult weight (70kg) we have enough room to continue increasing the dose up until desire effect was reached keeping in mind that 20 mcg/day is the maximum dose used in adults with bleeding disorders. Since discharge his sodium has remained stable as also his urine output and he has been able to reassume his daily activities. Conclusion: We present a case of CDI refractory to oral DDAVP.SC DDAVP was used and after slow titration patient was able to reach stable sodium levels and urine output with no side effects. Final dose was less than 50% of the dose used to...
Introduction: Noonan syndrome is a common autosomal dominant disorder with a prevalence of 1 in 1000-2500 births. The lymphatic disorders in Noonan syndrome are rare and usually bilateral. We present a 14-year-old male with Noonan syndrome and late-onset unilateral lower extremity lymphedema. Case presentation: A 14-year-old male with Noonan syndrome due to a pathogenic mutation in the RIT1 gene (c.265T>C p.Tyro89His) presented to emergency room due to progressive swelling of the right lower extremity. No history of recent trauma or injury. He had a history of small mid-muscular ventricular septal defect (VSD), chylothorax with right-sided pleural effusions during infancy, sensorineural hearing loss with bilateral hearing aids, and undescended testes status post-surgery. He had been on growth hormone (GH) therapy since age 12 years with good adherence and no reported side effects. In the emergency room, initial laboratory evaluation and Doppler ultrasound ruled out deep venous thrombosis. Physical exam was remarkable for edema of the right lower extremity, warm to touch, with erythema, not painful. Due to initial concerns for cellulitis, the patient was treated with antibiotics. Erythema improved but not the edema. Cardiac evaluation including echocardiogram with stable, unchanged VSD was unremarkable. Patient underwent additional workup notable for an albumin level of 4.4g/dl (3.4-5.0), Immunoglobulin (Ig) A 53 mg/dl (66-436), IgG 788 mg/dl (791-1643), IgM 82 mg/dl (43-279) and a stool alpha antitrypsin level of 0.65 mg/g (0.0-0.5) ruling out protein-losing enteropathy (PLE). Growth hormone was held initially and restarted after 2 months due to clinical improvement, but just for one week due to worsening swelling. Lymphoscintigraphy of lower extremities showed an asymmetry between the right and left leg in the transit, suggesting a mild lymphatic abnormality in the right leg. There was a significant improvement in terms of his lymphedema with physical therapy and compressive stocking after 6 months. He has been off growth hormone therapy since then. Discussion: Patients with Noonan syndrome may develop lymphedema and PLE, although findings are usually bilateral. Interestingly our patient has unilateral lymphedema that has been improving with compression stocks and physical therapy. Our patient was on GH therapy for 2 years before he developed lymphedema and although growth hormone causes water retention, we would not expect a selective involvement as in our patient. Based on his history of chylothorax we decided to perform a Lymphoscintigraphy that confirmed an abnormality in the lymphatic system of the right lower extremity. The effect of GH once restarting pointed it was a precipitating factor instead of the cause. Late-onset lymphedema is an uncommon presentation but should be a diagnosis that we have to keep in mind when patients with Noonan syndrome are presenting with edema.
Introduction: Idiopathic infantile hypercalcemia is an intriguing feature of Williams syndrome (WS), occurring in ~15% of diagnoses and is typically not clinically severe. Symptomatic hypercalcemia usually resolves during childhood, but lifelong abnormalities of calcium(Ca) and vitamin D metabolism may persist. The cause of the abnormality in Ca metabolism is still unknown. Hypercalciuria generally accompanies hypercalcemia, but isolated hypercalciuria, especially after infancy, can also occur. Nephrocalcinosis is relatively rare, found in less than 10% of patients undergoing renal ultrasonography. We report a 13-month-old female infant with a history of peripheral pulmonary stenosis and constipation, who presented with severe hypercalcemia that led to a new diagnosis of WS. Case presentation: A 13-month-old girl with a history of peripheral pulmonary stenosis, global developmental delay, and constipation presented to the neurology clinic for evaluation of gross motor delay. She was found to have upper body part hypotonia, decreased reflexes, and on laboratory evaluation, severe hypercalcemia with Ca level of 15.0 mg/dL (8.7 - 10.7). The patient was admitted for management of severe hypercalcemia. Physical exam was also remarkable for subtle features of WS: a happy baby, very social, with prominent eyes, full cheeks, flat nasal bridge, round nasal tip, full lips, and a wide smile. Repeated Ca level on admission was 15.9 mg/dL, with normal albumin level of 4.6 g/dL (2.9-5.5), elevated ionized calcium (iCal) of 1.99 mmol/L (0.95 - 1.32), and intact parathyroid hormone (PTH) of <4.0 pg/mL (8.0 - 85.0). Further evaluation revealed a normal 25 hydroxy-vitamin D:41 ng/mL (30-80) and low 1,25-dihydroxy vitamin D:10pg/mL (31-87). Further evaluation revealed elevated urine calcium to creatinine ratio of 0.7 (normal for age <0.56) and renal ultrasound remarkable for medullary nephrocalcinosis. The patient had a complete blood count within normal limits and a PTH related protein of 26 pg/mL (14-27), ruling out malignancy. Hypercalcemia responded well to intravenous fluids and diuretics, the patient being discharged home after two days on furosemide and potassium supplements with close electrolytes monitoring. The patient required calcium reducing therapy for four months to maintain Ca levels within 9-12 range. The medication was decreased gradually based on calcium and ical levels. The patient is currently doing well, with a normal calcium level, and has being off medication for the past three months. Conclusion: This is a rare case of severe hypercalcemia, which led to the diagnosis of WS. Although idiopathic infantile hypercalcemia occurs in 15% of patients with WS, usually the presentation is mild, and the patients do not require medical interventions. Our patient presented with severe hypercalcemia and subtle physical features of WS that led to genetic testing and final diagnosis.
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