Expanding coronary aneurysm in the late phase of Kawasaki disease

Abstract

Key words cerebrospinal fluid, DMD, middle chain fatty acid, mental retardation.We report on a male child with Duchenne muscular dystrophy (DMD) accompanied by a chromosomal anomaly, who showed serious developmental delay and anomalies. His clinical features were not typical of DMD and the levels of middle chain fatty acid in his cerebrospinal fluid were high. Informed consent for this report was obtained from the parents. CaseA 2-month-old boy was admitted because of fever and rash and was treated under the diagnosis of Kawasaki disease. At that time a developmental delay (he was unable to smile or follow moving targets) and hypotonia was found. His uncle showed hypotonia at birth, was diagnosed with DMD and died at the age of 20 of respiratory failure due to aspiration pneumonia. The presented patient was born as appropriate for date (his weight was 2156 g at 35 weeks) and kept in incubator because of apnea. His Apgar score was 9, and Guthrie test results were normal. On admission his height and weight were 55 cm (+0.44 SD) and 4320 g (+0.03 SD), respectively. He had brachycephalus, a high arched palate and left earlobe groove (Fig. 1). He showed general proximal muscle weakness and passive dorsiflexion could be seen on his knee, hands, elbows and foot joints. There was neither muscle atrophy nor pseudohypertrophy (enlargement of calf muscles). He showed horizontal nystagmus, frog leg position and positive Scarf sign. He was unable to smile or follow moving targets, he showed difficulty with head control and blood examination revealed increased muscle enzymes of aspartate aminotransferase (AST), alanine aminotransferase (ALT), lactate dehydrogenase (LDH), creatine kinase (CK), aldolase (ALD) (AST 239 IU/L, ALT 255 IU/L, LDH 1096 IU/L, CK 21747 IU/L (maximum 37919), ALD 263 IU/L). Thyroid function tests were normal. All hepatotropic viral studies were negative. Cell count, protein and pressure of cerebrospinal fluid, as well as metabolic studies (amino acid and organic acid), were all normal. Lactate and pyruvate were 15.5 mg/dL and 0.89 mg/dL, respectively in cerebrospinal fluid. There was no metabolic acidosis. AST, ALT, LDH, CK and ALD were constantly high until the age of 2. Chromosome analysis by G-Banding (Fig. 2) showed 46Y,inv(X)(p21.2q22.3). Multiplex ligation probe amplification analysis using 19 exons (Pm,3,4,6,8,12,13, 17, 19, 43, 44, 45, 46, 47, 48, 50, 51,52, 60) revealed a deletion, expanding from exon 42 to 60 (79) in DMD. Muscle biopsy at the age of 2 years showed scattered necrotic and regenerating fibers with moderate endomysial fibrosis, in addition to a moderate variation in fiber size. Immunohistochemical analysis revealed an absence of dystrophin, confirming the diagnosis of DMD (Fig. 3). Magnetic resonance imaging was normal except for mild atrophy in the frontal and parietal region. The progress of atrophy is not shown. Awake electroencephalogram at the age of 2 showed no epileptic discharge or a wave in the occipital area. Computed tomography showed a low density area in the muscle of...

Diagnosis, Treatment, and Long-Term Management of Kawasaki Disease: A Scientific Statement for Health Professionals From the American Heart Association

“…[265][266][267] in an angiography study of 562 patients noted new dilated or expanding lesions in 15 patients. The new aneurysms occurred at sites where previous aneurysms had diminished in size but were all associated with a localized stenosis, although none were associated with cardiac events.…”

Late Coronary Aneurysm Formation after Kawasaki Disease: a Review of Mechanistic and Clinical Aspects

“… 1) 8) This seems in strict contradistinction to the ‘late CAAs’ that usually emerge after a substantial latent period of years to decades. 9) 10) 11) 12) 13) In a population of 562 patients with KD, 17 late CAAs (15 new-onset and 2 expanding aneurysms) were previously reported in 15 patients (3%) with a male gender predominance (n=11). 10) Time at intial diagnosis of these aneuryms was reported to range from 1.9 to 19 years with a median duration of 11.4 years.…”

“…In a previous case report, a giant CAA (reaching a diameter of 11 mm) at left main coronary artery (LMCA) was attributed to the late expansion of a stable aneurysm at the same site after a period of 11 years in a male patient. 11) Within this context, a previous case series reported late CAA evolution in 2 segments of the right coronary artery (RCA) (each having a diameter of around 8 mm) after 10 years following the index KD episode in a boy. 12) In this case series, a ‘late CAA’ at the distal part of a long-stable ‘early CAA’ involving the proximal portion of circumflex artery was reported to arise after 28 years following the index KD episode in another male patient.…”

“… 13) Based on these reports, ‘late CAAs’ in the setting of KD also have a male gender predilection (similar to classical ‘early CAAs’), 1) 8) and generally arise several years or even decades after the index KD episode. 9) 10) 11) 12) 13) Accordingly, late CAA formation might be regarded mostly as a disease of adolescents or adults with a history of KD. 10) 11) 12) 13) …”

“…However, CAA formation in the setting of KD might occasionally arise as a late-onset phenomenon generally presenting with new-onset CAAs or expansion of long-stable ‘early CAAs,’ and might have diverse implications. 1) 9) 10) 11) 12) 13) On the other hand, the diagnostic criteria for early CAAs (including Z score value) 1) possibly apply to the diagnosis of these late-onset aneurysms. Of note, it seems likely that ‘late CAAs’ in the setting of KD might be confused with other vascular pathologies (including atherosclerotic CAAs) on coronary imaging, and are possibly underdiagnosed in clinical practice.…”