Peripheral neuropathy as a very rare symptom in a patient with Niemann–Pick type C with negative enzymatic evaluation: a case report

Background Niemann–Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and nerves. Niemann–Pick disease is categorized into four groups: A, B, C, and D. Peripheral neuropathy is an extremely rare complication in patients with Niemann–Pick type C, which certainly leads to neurologic deterioration. Case presentation We report a case of Niemann–Pick type C disease in a 3-year-old Iranian Azeri female patient who was hospitalized twice. The first time was at 1 month of age with symptoms of splenomegaly, jaundice, and elevated liver enzymes, and the second time was at around age 2 for loss of mental and physical abilities. The patient presented with failure to thrive. According to paraclinical examinations, mildly delayed myelination along with a nonspecific periventricular hypersignal intensity was seen. Interestingly, the patient’s Niemann–Pick type C enzymatic function was evaluated twice and was negative on both occasions, while she was positive for NPC1 and NPC2 gene examinations. Conclusions In this study, despite the enzymatic study being negative, Niemann–Pick type C disease was finally confirmed, revealing the importance of mutations in Niemann–Pick type C pathogenesis. Besides, peripheral neuropathy was diagnosed in this patient as a very rare symptom of Niemann–Pick type C.

Cholangiocarcinoma With Sepsis Associated With Percutaneous Transhepatic Biliary Drainage (PTBD)

Percutaneous transhepatic biliary drainage (PTBD) can be an alternative palliative treatment in resectable cholangiocarcinoma. One of the most common complications of PTBD is infection, with a prevalence of 3.6 – 67.4% in patients undergoing PTBD procedure, with mortality rate of 0.05-7%. We report a case of a 46-year old male with a history of fever 14 days after undergoing PTBD procedure. Physical examination revealed tachycardia, tachypnea, febris, jaundice, and decreased urine output. Laboratory results revealed hypochromic-microcytic anemia, leukocytosis, decreased renal function, elevated liver enzymes, obstructive icterus, hypoalbuminemia, and hyperkalemia. Blood and gall culture revealed a growth of Eschericia coli. The patient was given fluid resuscitation and antibiotic suitable to microbial sensitivity test, and treatment of acute kidney injury and hyperkalemia, including hemodialysis. The patient’s general condition improved after ten days of care, and was discharged on the twentieth day. Cholangitis is one of the most infectious complications following PTBD procedure. The prevalence of sepsis in biliary drainage procedures was reported 2.5-2.7%, with enteral bacteria gram-negative bacilli being the most common pathogen found in blood and bile. The administration of prophylactic antibiotics was not proven to decrease prevalence of infection. Bacterial translocation via portal vein due to loss of mucosal integrity in the intestines may contribute to bacteremia following PTBD procedure.

Liver transplantation in a child with liver cirrhosis caused by langerhans cell histiocytosis: a case report

Background Langerhans cell histiocytosis (LCH) is a rare condition that has a variety of clinical manifestations. But LCH in children localized only in the hepatobiliary system is unusual. Case presentation. Here we reported a rare case of a 2-year-old boy who was serendipitously found to have elevated liver enzymes while undergoing treatment of a perianal abscess. After a period of earlier conservative treatment in another hospital, the perianal abscess had resolved but the levels of liver enzymes were still rising slowly. The child was then referred to our institution for a definitive diagnosis. After laboratory tests, imaging and pathological examinations, a diagnosis of liver cirrhosis and sclerosing cholangitis was established, although the cause was unclear. Subsequently, living-donor liver transplantation was performed due to deterioration in liver function. Following successful liver transplantation, a diagnosis of LCH localized only within the hepatobiliary system was finally confirmed, based on additional pathological and imaging investigation. Additionally, the BRAF V600E mutation in this patient was also confirmed. The child has now recovered without evidence of LCH recurrence. Conclusions LCH localized only within the hepatobiliary system is unusual. The presence of unexplainable sclerosing cholangitis and liver cirrhosis in any child should raise the suspicion of LCH.

Intraductal papillary neoplasm of bile duct with invasive carcinoma as an intrahepatic cystic lesion, with successful preoperative diagnosis

An 82-year-old man presented to the emergency department with abdominal pain and febrile symptoms that had been present for 4 days. Blood tests showed elevated liver enzymes and white blood cell count, and abdominal contrast-enhanced CT revealed a 35 mm cystic lesion in the left lateral liver lobe. On closer examination, the cystic lesion was found to have contiguous bile duct dilatation and internal nodules. Furthermore, mucus production was observed during endoscopic retrograde cholangiopancreatography, which led to the diagnosis of intraductal papillary neoplasm of the bile duct (IPNB), with cystic infection. Although the patient was an older adult, there was no background disease that would have prevented surgery, and resection was performed. Pathological examination revealed type 1 IPNB, with invasive carcinoma. The number of reports of IPNB is expected to increase with an increasing older population in Asia, and we report the findings of this case.

Serum Lactate Dehydrogenase Level in Pregnancy Induced Hypertension and Fetomaternal Outcome

Hypertensive disorders complicate 5-10% of all pregnancies and associated with potentially dangerous maternal and fetal complications. Studies have shown that pre-eclamptic patients with higher levels of lactate dehydrogenase (LDH) are at high risk of developing subsequent complications with poor maternal and fetal outcome. So with the aim to correlate serum LDH level in pregnancy induced hypertension (PIH) with fetomaternal outcome this hospital based observational descriptive study was done at Tribhuvan University Teaching Hospital (TUTH) for the duration of 1 year from 15th May, 2018 to 14th May, 2019. Women with PIH fulfilling inclusion criteria were enrolled in the study. Serum LDH level was measured and severity of PIH, maternal and perinatal outcome were studied according to the levels of LDH. Results were analyzed using SPSS 18. The incidence of hypertensive disorder in pregnancy was 4.74% in this study and total 180 cases were enrolled. The mean serum LDH level increased with increase in severity of PIH. Thirty two (17.7%) cases had maternal complications and hemolysis elevated liver enzymes and low platelet (HELLP) syndrome was most common complication. More than 2/3rd (62.5%) of cases with LDH level >800 IU/L had complications. The most common perinatal complication was intrauterine growth restriction (IUGR). The perinatal morbidity and mortality were significantly high in patients with PIH with LDH level >800 IU/l. As with the increase in serum LDH level increase in maternal and fetal complications was observed, LDH can be a useful biochemical marker that reflects the severity of PIH.

The Incidence and Risk Factors of Extrapulmonary Manifestations in Mycoplasma Pneumoniae Pneumonia

Background: Mycoplasma pneumoniae pneumonia (MP) is a major cause of community acquired pneumonia (CAP) in children and it is known to be associated with extrapulmonary manifestations (EPM). The incidence and risk factors of EPM in children are not known.Methods: This is a retrospective study involving 65,243 pediatric CAP patients between 2010 and 2015 at 23 nationwide hospitals was conducted in South Korea. The medical records were reviewed to collect the information regarding the clinical characteristics, radiological results, and laboratory findings. In total, 9,190 children with MP were identified and included in the analysis. Logistic regression with multivariable analysis was performed to evaluate the risk factors associated with EPM in MP.Results: The mean age of the enrolled patients with MP was 64.3±39.8 months, and the proportion of male patients was 49.5%. The incidence of EPM was 23.9% and included elevation of liver enzymes (18.1%), mucocutaneous manifestations (4.4%), proteinuria (4.1%), cardiovascular and neurologic manifestation (0.4%), hematologic manifestation (0.2%) and arthritis (0.2%). Statistical analysis showed that mucocutaneous manifestations were significantly increased with elevated alanine aminotransferase (adjusted odds ratio [aOR] 3.623, 95% confidence intervals [CI] 1.933-6.790) and atopic sensitization (aOR 2.973, 95% CI 1.615-5.475) and decreased with respiratory virus co-infection (aOR 0.273, 95% CI 0.084-0.887). Elevated liver enzymes was significantly associated with the elevation of lactate dehydrogenase (aOR 3.055, 95% CI 2.257-4.137) and presence of pleural effusion (aOR 2.635, 95% CI 1.767-3.930) and proteinuria with respiratory virus co-infection (aOR 2.245, 95% CI 1.113-4.527). Conclusions: About 24% of pediatric MP patients were identified with various EPM. Since risk factors associated with each EPM was different, it is necessary to evaluate the various clinical aspects and findings of MP to predict and prepare for the occurrence of EPM.

Preeclampsia: From Etiopathology to Organ Dysfunction

Preeclampsia is a hypertensive disorder of pregnancy affecting 6–12% of the population. There are various risk factors for the development of preeclampsia, ranging from advanced maternal age to genetics. The proposed etiologies for preeclampsia are abnormal placentation, immunological intolerance, endothelial damage, and genetic inheritance. The pathogenesis includes endothelial activation and dysfunction leading to vasospasm. Preeclampsia is divided into two stages: asymptomatic and symptomatic stages. Preeclampsia causes multiple organ involvement, namely central nervous system, respiratory, cardiovascular, hematological dysfunction, HELLP (hemolysis elevated liver enzymes, low platelets) syndrome, endocrine, renal, hepatic, and uteroplacental dysfunction. These organ dysfunctions increase morbidity and mortality in preeclamptic pregnant patients.

Case Report: Early Onset Systemic Lupus Erythematosus Due to Hereditary C1q Deficiency Treated With Fresh Frozen Plasma

Background: Hereditary C1q deficiency is associated with early-onset autoimmunity causing SLE or SLE-like disease as well as increased risk for infections with encapsulated bacteria. It is a rare genetic condition inherited in an autosomal recessive manner, caused by mutations in C1q genes. Treatment and management of this rare disease are very complex and include prophylactic vaccination, antibiotics, and immunosuppressive drugs. There are two possible modalities for the replacement of the missing protein: regular fresh frozen plasma (FFP) administration and allogeneic hematopoietic stem cell transplant because the protein is derived from monocytes. Replacing C1q with FFP is being attempted in some patients with success in controlling the disease and in avoiding flare.Case Report: We report a case of sixteen-month-old girl with ulcerations in her mouth, skin erythema, and elevated liver enzymes. ANAs were positive, antibodies against dsDNA were negative, but she had positive anti-Smith antibodies. Complement complements C3 and C4 levels were normal. Total complement activity, classical pathway (hemolytic test) was deficient and C1q antigen was below the detection limit supporting the presence of C1q deficiency. The girl has pathogenic homozygous nonsense mutation in C1qC gene, Arg69Ter (c205>T). The initial response to corticosteroid therapy was good. Regular fresh frozen plasma infusions keep her disease under control, and we were able to reduce the dose of corticosteroids.Conclusion: Young patients with cutaneous lesions resembling SLE, early onset of autoimmunity, with normal C3, C4, elevated ANAs, and negative anti-dsDNA, C1q deficiency should be suspected and complement screening tests should be done. It is important to exclude secondary C1q deficiency. FFP in our patient seems to be well tolerated, without any side effects, able to control the disease.

Intra-Hepatic Cholestasis of Pregnancy and Its Consequences: A Review

Background: The most common cause of liver illness in pregnancy is intrahepatic cholestasis (IHCP). It has a varying incidence due to geographic variance; factors such as advanced age, multiple pregnancy, family history, and previous pregnancy cholestasis have demonstrated a higher prevalence in these patients. Cholestasis in pregnancy has an aetiology that is currently unknown. It usually occurs after ovarian hyperstimulation syndrome in early pregnancy and coincides with growing oestrogen levels in the second half of pregnancy [1]. The ABCB4 gene mutation is largely associated in a subtype of progressive familial intrahepatic cholestasis, where disease clustering in first-degree relatives increases hereditary predisposition. Itchy palms and soles with elevated liver enzymes and bile acids are the most common symptoms. Some of the reported maternal problems in these patients include preterm labour, HELLP syndrome, acute fatty liver of pregnancy, and postpartum haemorrhage [2]. There are no precise antenatal foetal monitoring tests that can predict foetal fatalities in the womb. To reduce perinatal death with expectant treatment beyond this gestation, it is recommended that a pregnancy be terminated near 36–37 weeks of pregnancy.

Screening Patterns in Abusive Abdominal Trauma

Background: Diagnosis of abusive abdominal trauma (AAT) is often clinically occult. Abdominal CT is the preferred method to diagnose abdominal injuries. However, due to risk of ionizing radiation, and cost, it is performed only in selected children. Recently, elevated liver enzymes were used to screen for occult AAT, but its accuracy is unknown due to inconsistent methodology and results. Objective: To determine the accuracy of elevated liver enzymes (transaminases) in the diagnosis of AAT and if pancreatic enzymes and clinical findings help in patients’ selection for abdominal CT. Methods: A retrospective (2011-2020) study on children younger than 3 years suspected of child abuse. The study group included children that had abdominal CT for suspected AAT, while the control group included similar number of children randomized from 5208 children evaluated for child abuse without an abdominal CT. Patients who had an incomplete medical record, were evaluated for cardiac arrest, or had a CT without contrast were excluded. Results: AAT is rare 0.6% (30/5434) in children suspected of child abuse. Transaminases were obtained in 99.1% of the AAT patients and 55.3% of the control cases. 93.1% (27/29) patients with abdominal injuries had elevated transaminases. The specificity and sensitivity for the transaminases in detecting positive abdominal CT was 93.3% and 90.0%, respectively. Only one additional case was identified with elevated pancreatic enzymes and negative transaminases. There was no clinical or imaging findings that could differentiate between patients with negative and positive abdominal CT scans. Based only on elevated transaminases, 11 CT scans need to be performed for a single positive study. Conclusion/Potential Impact: Transaminases have high sensitivity in predicting AAT. Universal use of transaminases in all children suspected of child abuse may result in 11 CT scans for one positive study. Therefore, more clinical judgement is necessary in selecting patients for CT.