Distal coronary artery abnormalities in Kawasaki disease: experience on CT coronary angiography in 176 children.

OBJECTIVE: Precise evaluation of coronary artery abnormalities (CAAs) in Kawasaki disease (KD) is essential. The aim of this study is to determine role of CT coronary angiography (CTCA) for detection of CAAs in distal segments of coronary arteries in patients with KD. METHODS: CTCA findings of KD patients with distal coronary artery involvement were compared with those on transthoracic echocardiography (TTE) during the period 2013-21. RESULTS: Among 176 patients with KD who underwent CTCA (128-Slice Dual Source scanner), 23 (13.06%) had distal CAAs (right coronary-15/23; left anterior descending-14/23; left circumflex-4/23 patients). CTCA identified 60 aneurysms-37 proximal (36 fusiform; 1 saccular) and 23 distal (17 fusiform; 6 saccular); 11 patients with proximal aneurysms had distal contiguous extension; 9 patients showed non-contiguous aneurysms in both proximal and distal segments; 4 patients showed distal segment aneurysms in absence of proximal involvement of same coronary artery; 4 patients had isolated distal CAAs. On TTE, only 40 aneurysms could be identified. Further, distal CAAs could not be identified on TTE. CTCA also identified complications (thrombosis, mural calcification and stenosis) that were missed on TTE. CONCLUSIONS: CAAs can, at times, occur in distal segments in isolation and also in association with, or extension of, proximal CAAs. CTCA demonstrates CAAs in distal segments of coronary arteries, including branches, in a significant number of children with KD-these cannot be detected on TTE. CTCA may therefore be considered as a complimentary imaging modality in children with KD who have CAAs on TTE.

Association of SNP (rs1042579) in thrombomodulin gene and plasma thrombomodulin level in North Indian children with Kawasaki disease.

BACKGROUND: Kawasaki disease (KD) is the commonest systemic vasculitis in children. It predisposes to development of coronary artery abnormalities (CAAs). Thrombomodulin (THBD) gene polymorphism rs1042579 is associated with high risk of cerebrovascular diseases. However, association of THBD polymorphism (rs1042579) and plasma thrombomodulin (TM) levels with susceptibility to KD and CAAs remains unclear. METHODS AND RESULTS: Polymorphism in THBD gene (rs1042579) was analysed in 50 KD patients and 50 age, gender and ethnicity matched controls using Sanger sequencing. Plasma TM levels were measured by ELISA. RESULTS: Mean plasma TM level (± SD) in KD patients was 2549.41 (± 853.18) pg/ml and in controls was 2298.03 (± 869.14) pg/ml; p = 0.042. Mean plasma TM levels in CC genotype was 2299.98 (± 834.88) pg/ml and in CT/TT genotype was 2837.96 (± 857.14) pg/ml; p = 0.005. Genotyping data did not reveal significant differences in patients with KD as compared to controls (p = 0.25), and in KD patients with and without CAAs (p = 0.407). Odds of finding T allele in cases were 2.07 times greater than in controls (p = 0.093). CONCLUSIONS: This is the first study from India, and second in the world, that investigates association of THBD gene polymorphism with KD. This is also the first study to assess plasma TM levels in KD patients. Our data show that plasma TM levels were significantly higher in KD patients with CT/TT genotypes. Further, the polymorphism rs1042579 at exon 1 of THBD gene was found to be more common in KD patients than in controls although the difference was not statistically significant.

Kawasaki disease malingering as juvenile dermatomyositis: case-based review : Myositis in Kawasaki disease.

Kawasaki disease (KD) is a medium vessel vasculitis that predominantly affects children below 5. Diagnosis of KD is based on the presence of characteristic clinical manifestations as there are no definite diagnostic laboratory investigations for the diagnosis of this disease. Presence of atypical clinical features such as myositis often pose diagnostic challenge for the treating physicians. Presence of myositis and severe muscular weakness in KD is distinctly unusual and may lead to delays in diagnosis and administration of definite therapy. We report a 10-year-old boy who presented with fever, rash and proximal muscle and pharyngeal weakness. A clinical possibility of toxic shock syndrome or juvenile dermatomyositis was initially considered. However, he continued to have fever and developed periungual peeling of skin in fingers. Hence, a possibility of KD with myositis was considered. He showed prompt response to intravenous immunoglobulin and methylprednisolone. We also provide a review of similarly reported cases of KD myositis. It is important for clinicians to be aware of this atypical clinical presentation to avoid delays in diagnosis and treatment of KD.

Macrophage activation syndrome in children with Kawasaki disease: an experience from a tertiary care hospital in northwest India.

OBJECTIVES: To carry out a review of clinical characteristics, laboratory profiles, management and outcomes of patients with Kawasaki disease (KD) and macrophage activation syndrome (MAS). METHODS: Medical records of patients treated for KD and MAS between January 1994 and December 2019 were reviewed. Patient demographics, clinical signs, laboratory values, coronary artery abnormalities, treatments and outcomes of patients with KD and MAS were recorded. We also performed a review published studies on the subject. RESULTS: Of the 950 cases with KD, 12 (1.3%; 10 boys, 2 girls) were diagnosed with MAS. The median age at diagnosis was 4 years (range 9 months-7.5 years). The median interval between onset of fever and diagnosis of KD was 11 days (range 6-30). Thrombocytopenia was seen in 11 patients. The median pro-brain natriuretic peptide value was 2101 pg/ml (range 164-75 911). Coronary artery abnormalities were seen in 5 (41.7%) patients; 2 had dilatation of the left main coronary artery (LMCA), 1 had dilatation of both the LMCA and right coronary artery (RCA), 1 had dilatation of the RCA and 1 had bright coronary arteries. All patients received IVIG as first-line therapy for KD. MAS was treated with i.v. methylprednisolone pulses followed by tapering doses of oral prednisolone. Additional therapy included i.v. infliximab (n = 4), second-dose IVIG (n = 1) and oral ciclosporin (n = 1). CONCLUSION: MAS is an unusual and underrecognized complication of KD. In our cohort of 950 patients with KD, 1.3% had developed MAS. KD with MAS is associated with an increased propensity towards development of coronary artery abnormalities.

Syndrome of progressive deforming non-inflammatory arthritis of childhood: two patients of camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare familial arthropathy of childhood, commonly misdiagnosed as juvenile idiopathic arthritis. It is characterized by non-inflammatory arthropathy, coxa vara deformity, and sterile pericarditis. We describe two children with CACP syndrome who were referred to the rheumatology clinic for the suspicion of inflammatory arthritis. A literature search was carried out using PubMed/ Medline and Embase databases. English language reports of mutation-proven cases of CACP syndrome reported until 31 March 2020 were retrieved and analysed. Both the children had a delay in diagnosis (age at diagnosis- 12 and 13 years, respectively) and had received immunomodulatory therapy for suspected inflammatory arthritis. Presence of symmetrical arthropathy of large joints, camptodactyly, and normal inflammatory parameters are clues that indicated CACP syndrome. One child with a novel variant in PRG4 also had associated mitral valve prolapse and regurgitation. Both had severe constrictive pericarditis requiring pericardiectomy. On literature review, a total of 98 mutation-proven cases of CACP syndrome have been reported till date. Arthropathy in CACP syndrome mainly involves knees, wrists, ankles, and hips. Pericarditis is usually mild, however, can present rarely with severe symptoms requiring surgical intervention. CACP syndrome can closely mimic inflammatory arthritis and early clinical recognition is important to avoid misdiagnosis. Molecular confirmation is essential for early diagnosis and future genetic counselling for affected families.

Emerging role of computed tomography coronary angiography in evaluation of children with Kawasaki disease.

Coronary artery abnormalities are the most important complications in children with Kawasaki disease (KD). Two-dimensional transthoracic echocardiography currently is the standard of care for initial evaluation and follow-up of children with KD. However, it has inherent limitations with regard to evaluation of mid and distal coronary arteries and, left circumflex artery and the poor acoustic window in older children often makes evaluation difficult in this age group. Catheter angiography (CA) is invasive, has high radiation exposure and fails to demonstrate abnormalities beyond lumen. The limitations of echocardiography and CA necessitate the use of an imaging modality that overcomes these problems. In recent years advances in computed tomography technology have enabled explicit evaluation of coronary arteries along their entire course including major branches with optimal and acceptable radiation exposure in children. Computed tomography coronary angiography (CTCA) can be performed during acute as well as convalescent phases of KD. It is likely that CTCA may soon be considered the reference standard imaging modality for evaluation of coronary arteries in children with KD.

Comparison of Long-Term Outcomes Between 7 Days and 28 Days Albendazole Monotherapy in the Treatment of Single-Lesion Neurocysticercosis in Children.

OBJECTIVES: The objective was to compare the long-term clinical, radiological, and cognitive outcomes in children with single-lesion neurocysticercosis who received 7 or 28 days of albendazole therapy. METHODOLOGY: This observational study conducted over 1 year included (1) consecutive children with single-lesion neurocysticercosis who received 7 or 28 days of albendazole therapy in the acute state and (2) completed follow-up for at least 5 years. Seizure recurrence, resolution of lesions, cognition (Malin's Intelligence Scale for Indian Children), behavior, and school performance (National Initiative for Children Healthcare Quality Vanderbilt Assessment Scale) were assessed. RESULTS: Group A (albendazole for 7 days) comprised 55 children, and group B (albendazole for 28 days) included 48 children. The mean age at the time of diagnosis of neurocysticercosis was 6.6 ± 1.8 years; the mean age at the time of assessment for the study was 13.2 ± 1.2 years. Focal-onset seizures were the most common clinical presentation (58.3%). The majority of lesions were ring-shaped (92.3%) or colloidal (58.2%), with perilesional edema (89.3%). In the long-term follow-up, radiological resolution of the lesions was comparable in both groups. Complete resolution was seen in 52.7% receiving 7 days and 54.2% receiving 28 days albendazole. Seizures recurred in 20% receiving 7 days and 20.8% receiving 28 days albendazole. Overall, a low intelligence quotient (IQ < 70) was seen in 55.3% cases, "somewhat problematic" school performance in 12%, and behavioral abnormalities were present in 20% of the cases. The results were comparable between the 2 groups. CONCLUSION: Seizure control, radiological resolution of lesion, school performance, cognitive and behavioral outcomes in the long term are comparable in children with single-lesion neurocysticercosis who have received albendazole cysticidal therapy for 7 days and 28 days. Recurrence of seizure is seen with both regimens in the long term, necessitating regular follow-up and discussion regarding the risk of recurrence before a withdrawal of anticonvulsant therapy.

Mystery of a Family with Recurrent Male Infant Deaths- Solved by Autopsy and Molecular Tests.

The authors report a case of a six weeks old boy who presented with acute febrile illness and progressive abdominal distension. There was a significant family history of early male sibling deaths. Autopsy showed multiorgan abscesses. Molecular test revealed final diagnosis of the child.

Clinical and laboratory profile of trichinellosis from a non-endemic country.

Trichinellosis is a zoonotic parasitic infection caused by nematodes of the genus Trichinella. Humans mostly get infected by eating raw/under-cooked pork. In India, it has been reported mostly as sporadic cases especially from North Eastern and Eastern part of country. In this study, we retrospectively analyzed the socio-demographic pattern, clinical presentation, laboratory profile and treatment response in Trichinella-infected patients visiting our tertiary care center which mainly caters to patients from North India. For this retrospective laboratory-based analysis, patients diagnosed on the basis of positive anti-Trichinella IgG antibodies between 1st June 2008, and 31st May 2019 were included. A total of 11 positive trichinellosis cases were detected, of whom majority were children who presented with history of fever, gastrointestinal symptoms, myalgia, eosinophilia along with hepatomegaly and pulmonary manifestations. No CNS involvement was seen in any of the patients although it is commonly associated with Trichinella infection. All patients recovered uneventfully after antihelminthic treatment.