Atypical Kawasaki disease presenting with macroscopic hematuria in an infant: a case report.

BACKGROUND: Kawasaki disease is an acute febrile condition in children. It affects mainly children under 5 years old, and is known to cause coronary artery abnormalities if treatment is delayed. The diagnosis rests mainly on clinical criteria. However, it is also known that some infants do not have diagnostic criteria sufficient enough for the diagnosis of Kawasaki disease. Further, children may rarely present with unusual features, and this entity is recognized as "Atypical Kawasaki disease." CASE PRESENTATION: We present the case of a 9-month-old Tamil boy who presented with sterile gross hematuria in association with prolonged fever, lymphadenopathy, and generalized maculopapular rash. He had high inflammatory markers and echocardiogram disclosed left coronary artery dilatation. The diagnosis of incomplete Kawasaki disease was confirmed based on clinical grounds supported by investigations and exclusion of differential diagnosis. The child showed a good response to intravenous immunoglobulin and aspirin. CONCLUSION: Kawasaki disease is one of the important differential diagnoses of protracted fever of unknown origin in very young children. Since delayed treatment is associated with a high risk of complications, atypical Kawasaki disease needs to be suspected in children presenting with unusual features such as macroscopic hematuria that occurs in association with unexplained prolonged fever.

Acute appendicitis during the recovery phase of dengue hemorrhagic fever: two case reports.

BACKGROUND: Dengue fever is one of the most common tropical diseases, with high prevalence in many tropical countries including Sri Lanka. Dengue infection can present from subclinical infection to dengue shock syndrome. Further, the disease also shows a variety of atypical presentations and has been reported to mimic a number of causes of acute abdomen. CASE PRESENTATION: The authors report two children (a 6-year-old Tamil girl and an 8-year-old Muslim girl) who were diagnosed to have acute appendicitis during the early recovery phase of dengue hemorrhagic fever (DHF) and late recovery period of dengue hemorrhagic fever with platelet count of 92 × 103/cumm and 102 × 103/cumm, respectively. Both children were investigated with abdomen ultrasound as they developed severe abdominal pain and tenderness on palpation during the recovery phase, which was felt to be very unusual. Acute appendicitis was diagnosed in one child, while the other child had a ruptured appendicular abscess. Both children were treated with laparoscopic appendectomy and a 7-day course of intravenous antibiotics. Both children were reviewed in 1 month following treatment and had complete recovery. CONCLUSION: Although precise pathophysiology and associations of the surgical abdomen with dengue fever remain to be elucidated, there are known factors in dengue fever that can potentially lead to secondary bacterial infections and surgical abdomen. Awareness and increased suspicion by the clinician are paramount to detect such complications early, especially in children who demonstrate unusual clinical features during various stages of dengue infection.

Expanded dengue syndrome presenting with acute liver failure, acute kidney injury, pancreatic involvement, coagulopathy, and multiple intracranial hemorrhages in a young child: a case report.

BACKGROUND: Dengue is a mosquito-borne viral infection that typically occurs in tropical and subtropical countries. The clinical manifestations of dengue infection range from an asymptomatic subclinical course to severe dengue shock syndrome. Besides, dengue can affect any organ in the body and can present with atypical manifestations. CASE PRESENTATION: We report a 6-year-old previously healthy Tamil child who had dengue complicated with multiorgan involvement. She initially presented with high fever, headache, body aches for 5 days, blood and mucus diarrhea, hematuria, and right knee joint swelling for 2 days. Dengue NS1 antigen was positive on day 2 of febrile illness. She was managed symptomatically in the local hospital for 3 days and transferred to the tertiary care hospital for further management. She was eventually diagnosed as having dengue hemorrhagic fever complicated with multiorgan involvement including acute liver failure, pancreatic involvement, coagulopathy, arthritis, acute kidney injury, and multiple intracranial hemorrhages. The constellation of disease manifestations was identified as expanded dengue syndrome. She was managed with fresh blood, platelet, and cryoprecipitate transfusions and intravenous antibiotics in addition to renal and liver support in the intensive care unit. On day 14 of illness, she deteriorated while on the ventilator and died due to multiple intracranial hemorrhages. CONCLUSION: The reported child with dengue hemorrhagic fever developed several unusual presentations such as acute liver and renal failure, disseminated intravascular coagulopathy, pancreatic involvement, and multiple intracranial hemorrhages, which form part of expanded dengue syndrome. In the seriously unwell child, it is important to look for unusual complications actively to improve outcomes.

Multiple aplasia cutis congenita type V and fetus papyraceous: a case report and review of the literature.

BACKGROUND: Aplasia cutis congenita is regarded as congenital focal absence of skin in the newborn, and occurrence of more than three similar skin defects is rare. The etiology is thought to be multifactorial, and precise etiopathogenesis is unknown. CASE PRESENTATION: A 13-day-old newborn Sri Lankan Tamil girl was referred to the dermatologic clinic with multiple skin defects at birth. There were six lesions on the body, and two of them had healed during intrauterine period, leaving scars. This was a second twin of her pregnancy. Her first twin fetus had demised before 19 weeks of pregnancy and was confirmed to be fetus papyraceous based on ultrasound-guided fetal assessment. The said child was thoroughly investigated and found to have no other congenital abnormalities. Chromosomal studies yielded normal findings. She was treated with tropical antibacterial ointment, and all lesions resolved spontaneously within 4 weeks, leaving scars. Physiotherapy was commenced to prevent contracture formation, and follow-up was arranged in collaboration with the plastic surgical team. CONCLUSIONS: Aplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role. This report described a newborn with type V cutis aplasia congenita in whom the diagnosis was confirmed based on clinical features and revision of antenatal history. The management depends on the pattern, extent, location, severity, underlying causes, and associated anomalies.

Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis.

BACKGROUND: Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous autosomal recessive hyper-inflammatory syndrome which needs early accurate diagnosis and appropriate treatment to prevent complications and early mortality. Recently, it was reported that mutations in STXBP2 gene are linked to FHL type 5 (FHL-5). CASE PRESENTATION: We report a Sri Lankan neonate who presented with low Apgar scores at birth, abdominal distension, and hepatosplenomegaly, followed by lethargy, poor sucking and rapid decompensation with wide spread activation of inflammation within 48 h of birth. Her elder sibling also had a similar presentation during early neonatal period and deceased at two weeks of age with no diagnosis. Unfortunately, the index case deceased at 14 days of age following multi-organ dysfunction and severe metabolic acidosis. Targeted gene panel followed by reflex exome sequencing revealed a novel likely pathogenic homozygous variant in the STXBP2 gene (NM_001272034.1:c.1141-2A > G) which confirmed the diagnosis of autosomal recessive FHL-5. CONCLUSION: Early diagnosis of FHL type 5 using genetic analysis and timely treatment are difficult in the absence of family history due to a wide spectrum of clinical manifestations. However both early diagnosis and treatment doesn't alter the long term prognosis. So genetic counselling would be the better option.

Homozygous autosomal recessive hypercholesterolaemia in a South Asian child presenting with multiple cutaneous xanthomata.

Autosomal recessive hypercholesterolemia (ARH; OMIM #603813) is an extremely rare disorder of lipid metabolism caused by loss-of-function variants in the LDL receptor adapter protein 1 (LDLRAP1) gene, which is characterized by severe hypercholesterolaemia and an increased risk of premature atherosclerotic cardiovascular disease. We report the case of an 11-year-old girl who presented with multiple painless yellowish papules around her elbows and knees of two-year duration. She had been reviewed by several general practitioners, with some of the papules having been excised, but without a specific diagnosis being made. The child was referred to a paediatric service for further evaluation and treatment of the cutaneous lesions, which appeared xanthomatous in nature. A lipid profile showed severe hypercholesterolaemia. Next generation sequencing analysis of a monogenic hypercholesterolaemia gene panel revealed homozygosity for a pathogenic frameshift mutation, c.71dupG, p.Gly25Argfs*9 in LDLRAP1. Her parents and brother, who were asymptomatic, were screened and found to be heterozygous carriers of the LDLRAP1 variant. There was no known consanguinity in the family. She was commenced on the HMG-CoA reductase inhibitor, atorvastatin, to good effect, with a ∼76% reduction in LDL-cholesterol at a dose of 50 mg per day. At six-month follow-up, there had been no obvious regression of the xanthomata, but importantly, no enlargement of, or the development of new papular lesions, have occurred. In summary, we report a child who presented with multiple cutaneous xanthomata and was confirmed to have ARH by the presence of a homozygous novel pathogenic frameshift variant in LDLRAP1.

Clinical and Radiological Characterization of an Infant with Caudal Regression Syndrome Type III.

Caudal regression syndrome is a rare disorder of developmental failure of lumbosacral vertebra and corresponding spinal cord during notochord formation. The severity varies from absent coccyx to complete absence of lumbosacral vertebra and caudal spinal cord. Both genetic and environmental factors are believed to play roles in aetiopathogenesis of caudal regression. The authors report a two-month-old child born to a diabetic mother, in whom the diagnosis of caudal regression syndrome type III was confirmed based on clinical and radiological characteristics. The child was managed by the multidisciplinary team to continue supportive care and screen and monitor for long-term complications. The long-term prognosis for mobility was less favourable given the presence of bilateral hip dysplasia and involvement of lumbar vertebra in addition to sacral agenesis.

Pulmonary tuberculosis presenting as lung abscess in a 10-month-Old infant.

Tuberculosis in infants although less common compared to older children and adults, is associated with a high risk for milliary tuberculosis, tuberculosis meningitis and overall higher mortality. Lung abscess commonly presents following severe community acquired bacterial infections and is extremely rare in infants with tuberculosis. This report presents the case of a 10-month-old infant who had an unusual presentation of pulmonary tuberculosis with no cough, poor growth or documented temperature >38 C despite extensive right lung involvement with lung abscess formation and pleural effusions. Inflammatory markers were minimally deranged. The diagnosis of pulmonary tuberculosis was confirmed based on positive tuberculosis polymerase chain reaction test. The child made a successful clinical and radiological recovery upon completion of anti-tuberculosis drug regimen for six months. This report brings to light that it is crucial for clinicians to have a high index of suspicion of tuberculosis irrespective of age of the patient, presenting symptoms and low prevalence since delayed diagnosis of tuberculosis in infants is associated with poor outcomes.

A case report of dengue hemorrhagic fever complicated with diabetic ketoacidosis in a child: challenges in clinical management.

BACKGROUND: Diabetic ketoacidosis (DKA) is a common presentation of type 1 diabetes mellitus (T1DM) precipitated by various bacterial and viral infections. Dengue infection is no exception for this and can be a precipitating factor for DKA. The presentation of DKA with dengue haemorrhagic fever (DHF) has been reported in adults. However, it is very rarely observed in children. CASE PRESENTATION: We present the case of a paediatric patient who was previously healthy and subsequently, developed polyuria (above 3 ml/kg/hour), irritability and high blood glucose (724 mg/dl) during the critical phase of DHF. DKA was diagnosed with DHF and managed successfully with insulin and intravenous fluids. He recovered without complications and discharged home with follow up being arranged at the endocrinology clinic. CONCLUSIONS: When both DHF and DKA present together in a patient, meticulous monitoring of glycaemic control as well as fluid management is required to reduce the potential risk for severe complications of both conditions. Since there are no similar paediatric case reported in the literature, this case report might inspire paediatricians to anticipate the possibility of DKA in children with DHF.

Dengue hemorrhagic fever as a rare cause of chronic immune thrombocytopenic purpura-a pediatric case report.

BACKGROUND: Dengue is a common mosquito-borne infection in tropical countries. Dengue incidence in Sri Lanka is generally showing a rising trend. Both chronic immune thrombocytopenia purpura (ITP) children and chronic ITP triggered by dengue fever in the pediatric age group are rarely reported. This unusual presentation is a diagnostic challenge to clinicians. The authors have reported a pediatric patient who presented with chronic ITP following recovery from dengue hemorrhagic fever. CASE PRESENTATION: A 14-year-old previously healthy boy was initially managed as for dengue hemorrhagic fever. Following initial detection of persistent thrombocytopenia at 2 weeks post-discharge, his parents defaulted follow-up for 1 year as he remained asymptomatic. However, 1 year after initial admission, the child re-presented with ecchymotic patches and a platelet count of 30 × 103/cumm. Review of serial blood counts performed during previous hospital admission and by his parents themselves revealed persistent thrombocytopenia over preceding 12 months. Subsequently, the child had an in-depth evaluation. The diagnosis of ITP was confirmed by ruling out differential diagnosis and he was managed as for chronic ITP. His platelet counts showed good response to oral corticosteroids and he is currently being followed up at the pediatric hematology clinic. CONCLUSION: While reporting, a 14-year-old boy who developed chronic ITP following dengue hemorrhagic fever, this report highlights importance of frequent monitoring of blood counts to accurately detect and manage critical phase of dengue fever. The report also highlights the value of monitoring platelet counts in post-recovery phase to ensure they have normalized.

Maternal-Fetal Perinatal Transmission of Staphylococcal Infections: A Report of Two Neonates.

Staphylococcal infection in terms of fetus is rare and is associated with either maternal staphylococcal sepsis or colonization that leads to vertical transmission. Antenatal invasive procedures are a recognized risk factor. Most reported newborns with fetal-onset staphylococcal infections have had a worse outcome. We report the story of two newborns who had pustular-bullous skin lesions at birth and responded successfully to antistaphylococcal antibiotics. Both neonates made complete recovery. It is important to suspect clinically the staphylococcal infections when bullous skin lesions are present in the newborn.

Trichotemnomania in an Adolescent Girl: A Case Report of an Asian Child and Literature Review.

Trichotemnomania (TT) refers to cutting or shaving of one's own hair as a compulsive act. This condition is reported rarely and may be indicative of an underlying obsessive-compulsive disorder. TT may be misdiagnosed with trichotillomania or other disorders such as alopecia areata, tinea capitis, and postinflammatory scars. The diagnosis of trichotemnomania is confirmed by dermoscopic assessment, histopathological changes of hair, and correlation of these findings with clinical history. A fourteen-year-old adolescent girl presented with focal hair loss over forehead for duration of two-weeks and periodic abnormal breathing and poor sleep for 2-month duration. Besides, she had also lost some of pubic hair and hair on the forearm over preceding 24 hours. This patient was assessed by a team including a paediatrician, gynecologist, dermatologist, and psychiatrist to gather focused medical history and to perform physical examination, laboratory investigations, and dermoscopic assessment. It was revealed that she used to shave or cut regularly following stressful situations across various aspects of her life and hyperventilate as a means of relieving her stress. Eventually, she was diagnosed to have trichotemnomania and was started oral sertraline 50 mg/day for one month. Clinical features and her behaviour improved with regular cognitive behavioural therapy, and hairs were demonstrated to grow up normally with change in behaviour. Currently, she does well at school and is off medications and being followed up at the child guidance clinic. Trichotemnomania is a very rare disorder which is characterised by cutting or shaving of one's own hairs as a compulsive habit. The condition needs careful and detailed assessment by a team of specialists to identify coexisting psychiatric disorders and offer treatment.