European Journalof

Letters to the editors

Pediatrics

Eur J Pediatr (1992) 151 : 388-390

Airway obstruction in relapsing polychondritis: a case in childhood G. Gemme, G. Hanau, R. Mulas, A. Delogu, and L. Moni Auxology Service, University of Genoa, G. Gaslini Istitute, Largo G, Gaslini, 5, 1-16147 Genoa, Italy, Received August 13, 1991 / Accepted September 17, 1991

Sir: Relapsing polychondritis (RP) is an uncommon, probably auto-immune, systemic disease characterized by recurrent inflammation and destruction of cartilage. It occurs in both sexes and at all ages, but at least 80% of patients are between 20 and 60 years of age [2]. A n early diagnosis is often difficult in childhood [1] because of the rarity of RP and its peculiar manifestation in children, as the following case shows~ A previously healthy boy aged 12 years and 8 months presented in October 1989 with an 8-month history of recurrent episodes of inspiratory dyspnoea treated with steroids and antibiotics. Physical examination showed dysphonia and dyspnoea, with inspiratory stridor and wheezing, occurring after stress and during sleep, and red eyes. Laboratory studies showed abnormalities of inflammation factors, but, tests for infectious and rheumatic diseases were negative. CT and M R I of head and neck also were negative. Indirect laryngoscopy revealed erythema and oedema of the vocal cords. Exacerbations of respiratory distress were well controlled by steroids until March 1990 when a tracheotomy was needed. A t that time direct laryngoscopy showed oedematous vocal cords. Shortly after the patient had a sudden onset of bilateral neurosensory hearing loss and arthralgias involving the left foot and left thumb. Laboratory studies revealed hypochromic anaemia with a high level of ferritin. CSF analysis was negative. Nasal chondritis occurred 18 months after the beginning of the disease and resulted in a saddle nose deformity. A diagnosis of RP was suggested based upon McAdam's criteria [3] requiring occurrence of at least three of the following clinical features: auricular chondritis, non-erosive polyarthritis, nasal chondritis, ocular inflammation, laryngeal and/or laryngotracheal chondritis, auditory and/or vestibular dysfunction. The diagnosis was later confirmed by nasal cartilage biopsy executed during an acute episode of inflammation. Histological investigation showed perichondrial granulation tissue and inflammatory cell infiltration; chondrocytes were distended by numerous vesicles. On electron microscopy, the chondrocytes showed villous processes, dense cytoplasmic particles, and a distended and highly disintegrated endoplasmic reticulum. Our patient responded only to high doses of steroids while, during remission phases, low doses of steroids did not prevent new exacerbations. A t present, we are trying to control the disease with cyclosporin. Our case demonstrates that long lasting respiratory symptoms in children may be an early manifestation of RP.

9 Springer-Verlag 1992

References 1. Gaffosse M, Adnet JJ, Fandre M, Gougeon J (1985) Polychondrite chronique atrophiante de l'enfant. Rev Rhum 52 (10) : 571-576 2. Herman JH (1984) Polychondritis. In: Kelley WM, Harris ED, Ruddy S, Sledge CB (eds) Textbook of rheumatology, 2nd edn. WB Saunders, Philadelphia, pp 1458-1467 3. MacAdam LP, O'Hanlan MA, Bluestone R, Pearson CM (1976) Relapsing polychondritis: prospective study of 23 patients and a review of the literature. Medicine 55 : 193-215

Alkaptonuria detected by neuroblastoma screening system N. Sakura 1, Yo Kato I, M. Hamakawa 2, and S.Yamaguchi 3 ~Department of Paediatrics, Hiroshima University School of Medicine, Kasumi 1-2-3, Minami-ku, Hiroshima, Japan ZHiroshimaCity Clinical Research Centre, Senda-machi, 3-8-6, Naka-ku, Hiroshima, Japan 3Department of Paediatrics, Gifu University School of Medicine, Tsukasa-cho, 40, Gifu, Japan Received August 15, 1991 / Accepted November 22, 1991

Sir: Since 1985, Japanese infants have been screened nationwide for neuroblastoma using a urinary vanillyl mandelic acid spot test at the age of 6 months. In 1987, a high performance liquid chromatography (HPLC) system was introduced [1]. For the accuracy of screening, clinical information must be accumulated regarding the interference of other metabolites with the HPLC method. The HPLC screening system for neuroblastoma has detected vanillyl mandelic acid and/or homovanillic acid. It has been predicted that other metabolites derived from aromatic amino acids could also be detected by this system. In fact, xanthurenic aciduria (a defect of tryptophan metabolism) has been diagnosed with this system (personal communication). With this screening system, we have incidentally found a infantile case of alkaptonuria. The case was a full-term male infant delivered without any complications, but who was sometimes noted to have pink staining in his wet diapers from 1 week of age. A t the age of 6 months, he was screened for neuroblastoma and referred to us by the screening centre because of the presence of a large unknown peak on the chromatogram. Otherwise, he was clinically asymptomatic and developing normally. A diagnosis of alkaptonuria was suspected when his urine was observed to darken on standing [3]. The chromatogram from the patient's urine showed a large peak with a retention time (RT) of 6.192min using the HPLC system for neuroblastoma screening [2]. This peak eluted between vanillyl mandelic acid (RT = 5.592) and homovanillic acid ( R T = 9 . 5 1 7 ) . Homogentisic acid, a standard sample, showed a same retention time of 6.207 min. Abbreviations: HPLC = high performance liquid chromatogra-

Abbreviation: RP = relapsing polychondritis

phy; RT = retention time