MAEDICA – a Journal of Clinical Medicine Mædica - a Journal of Clinical Medicine 2020; 15(3): 394-400 https://doi.org/10.26574/maedica.2020.15.3.394 CASE REPORTS Respiratory Failure in a Rare Case of Juvenile Dermatomyositis – Systemic Scleroderma Overlap Syndrome Nicoleta Aurelia POPESCUa, Dana MANEAa, b, Georgiana CAPITANESCUa, Eliza CINTEZAc, d, Marcela Daniela IONESCUa, c, Mihaela BALGRADEANa, c aPediatric Department, “M.S. Curie” Children’s Emergency Hospital, Bucharest, Romania bAnaesthesiology and Intensive Care Therapy Unit, “M.S. Curie” Children’s Emergency Hospital, Bucharest, Romania c”Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania dPediatric Cardiology Department, “M.S. Curie” Children’s Emergency Hospital, Bucharest, Romania BACKGROUND Juvenile dermatomyositis (JDM) is one of the pediatric systemic connective tissue disorders, consisting of an idiopathic inflammatory myopathy, affecting primarily skin and muscle, representing approximately 85% of cases in this group. A significant source of morbidity is the occurrence of overlap characteristics with other connective tissue disorders, including systemic sclerosis (SSc). Overlap JDM/SSc syndrome is rare in children, with only a few reported cases. The diagnosis is often challenging, presence of anti-PM/Scl antibodies playing a pivotal role. Although SSc/JDM overlap syndrome has less frequent visceral involvement, pulmonary dysfunction may occur. The respiratory function evaluation using overnight cardiorespiratory polygraphy may reveal important alveolar hypoventilation with impact on therapeutic approach. Non-invasive ventilation may be indicated to potentiate medical treatment. In the acute phase, non-invasive ventilation is a life-saving therapeutic option until the maximum efficiency of drug treatment is reached. In the case of a complex respiratory pathology, associating elements of nocturnal alveolar hypoventilation specific to neuromuscular disease, with that of chronic interstitial lung disease, the evaluation of respiratory sleep disorders should be considered, sometimes requiring home nocturnal non- invasive ventilatory support. We present the case of a 15-year-old girl who was admitted to our clinic with a history of high fever, productive cough and severe dyspnea. Detailed anamnesis revealed that the patient accused one- year history of proximal muscle weakness of the lower limbs, with functional limitations, weight loss, dysphonia, swallowing difficulties and dyspnea at minimal efforts. Following the physical examination, laboratory and imagistic investigations were all suggestive for an inflammatory myopathy. Anti-PM/Scl antibodies were positive, confirming the diagnosis of a severe form of JDM/SSc overlap syndrome, with minimal cutaneous changes, significant muscle involvement and respiratory distress. Complex therapy using antimicrobial agents, steroid pulse therapy, immunosuppressive agents, non-invasive ventilation, Address for correspondence: Marcela Daniela Ionescu Email: [email protected] Article received on the 16th of September 2020 and accepted for publication on the 22nd of September 2020 394 Maedica A Journal of Clinical Medicine, Volume 15, No. 3, 2020 A RARE CASE OF RESPIRATORY FAILURE oxygen supplementation and physiotherapy was started, with significant status improvement. However, pulmonary function tests maintained severe restrictive aspect and nocturnal cardio-pulmonary polygraphy revealed residual pulmonary failure with important nocturnal alveolar hypoventilation. Nocturnal non-invasive ventilation was continued at home, along with medical treatment. Her disease was clinically well controlled, immunosuppressive therapy was decreased and interruption of ventilatory support was possible at six months after the diagnosis. Keywords: dermatomyositis-systemic sclerosis overlap, child, pulmonary dysfunction, overnight cardiorespiratory monitoring, non-invasive ventilation. INTRODUCTION sclerodactyly and may progress to associate other SSc features. However, during the disease, at uvenile dermatomyositis (JDM) is one of the some periods, symptoms of scleroderma or der- systemic connective tissue disorders that af- matomyositis are prevalent, variously pronounced fect children, representing approximately in individual cases. Cutaneous changes of both 85% of cases in this group. The reported an- SSc and JDM develop within the first year of the nual incidence ranges from two to four cases disease. The JDM/SSc overlap differs from syste- Jper one million children, with girls being affected mic scleroderma by the absence of digital pits and more often than boys. It consists of an idiopathic ulcer, acrolysis and contractures of the fingers. inflammatory myopathy, affecting primarily skin Some sclerodermoid features of the face are com- and muscle. Despite treatment improvements, it mon. Exceptionally, the onset can be sudden, is still associated with significant mortality and with fever, myalgia, Raynaud’s phenomenon. morbidity. An important source of considerable Muscle involvement can be insidious. Myositis is morbidity is the occurrence of overlap characte- clinically indistinguishable from primary JDM. It is ristics with other connective tissue disorders, in- proximal, symmetric, causing function limitations, cluding systemic sclerosis (SSc), rheumatoid ar- such as frequent falls, difficulty in climbing stairs, thritis, Sjogren’s syndrome and systemic lupus washing, feeding themselves. The muscle and cu- erythematosus (1, 2). Overlap JDM/SSc syndrome taneous signs of JDM are usually transient. Visce- is rare in children, with only a few cases been re- ral involvement is often mild than in adults (5). ported. The diagnosis is often challenging. Al- Laboratory findings are supportive of the diagno- though it is a rare disease in children, the presen- sis: elevated levels of muscle enzymes, presence tation appears similar to adults, except for the of autoantibodies, elevated serum and urine myo- visceral involvement. In patients with unusual globin. The presence of anti-PM/Scl antibodies clinical features, an unusual clinical course or has a key role in confirming the diagnosis (3). those with scleroderma overlap features, testing Magnetic resonance imaging (MRI) of skeletal myositis-specific antibodies is useful. Usually, the muscles is helpful for detecting areas of muscle initial characteristic presentation in pediatric pa- inflammation. Electrophysiologic abnormalities tients is JDM (3). on electromyography (EMG) and muscle biopsy Juvenile dermatomyositis is diagnosed using cli- are invasive diagnostic procedures that are re- nical, laboratory and microscopic methods. In 2017, served for cases in which other investigations are the European League Against Rheumatism/Ame­­ ­­ inconclusive (13). rican College of Rheumatology (EULAR/ACR) de- Although SSc/JDM overlap syndrome in chil- veloped revised the classification and diagnostic dren has less frequent visceral involvement than criteria for adult and juvenile inflammatory myopa- adults, pulmonary dysfunction may occur. Respi- thies, including variables related to muscle weak- ratory muscle weakness, affecting inspiratory, ex- ness, skin manifestations, laboratory findings and piratory and upper airway muscles, can cause in- other clinical manifestations. Muscle biopsies are sufficient ventilation, ineffective cough, nocturnal infrequently performed in children (4). hypoventilation, along with bulbar dysfunction. The occurrence of overlap features with other Impairment of both upper airway muscles and systemic connective tissue disorder creates diffi- upper esophagus induces difficulty swallowing, culties in diagnosis. JDM/SSc overlap presents tracheal aspiration or food reflux into the naso- with facial skin changes, Raynaud’s phenomenon, pharynx, dysarthria, nasal voice, weak mastica- Maedica A Journal of Clinical Medicine, Volume 15, No. 3, 2020 395 A RARE CASE OF RESPIRATORY FAILURE tion, abnormal secretion clearance and protru- motor vehicles and climbing stairs. Later, she no- ding tongue (1, 6). These perturbations, along with ticed the progressive association of voice changes decreased accessory respiratory muscle activity, – nasal voice, dysphonia, swallowing difficulties for may produce upper airway obstruction during in- liquids or solids, reflux of food into the nasopha- spiration and exacerbate hypoventilation, espe- rynx, dyspnea at minimal efforts, involuntary weight cially during nocturnal sleep. An ineffective cough loss (8 kg through the last six months) and accen- may be associated and the risk of aspiration, se- tuated proximal motor deficit. The antenatal, natal cretion retention, pneumonia and respiratory fai- and postnatal histories were insignificant. There lure is very high (6). Although pulmonary manifes- was no family history of any neurological disease. tations are much less common in children than Physical examination upon presentation re- adults, interstitial lung disease (ILD) may occur. vealed an underweight patient, with a poor gene- The pulmonary pathology is mostly extrapolated ral condition, inexpressive mimic, stretch marks in from adults because 30% to 50% of adults with the lower limbs, without other cutaneous sugges- dermatomyositis have ILD, whereas the pulmo- tive elements, apparent normal osteoarticular sys- nary expression in JDM/SSc or JDM is extremely tem, but with severe proximal muscle weakness rare in children (7). The diagnosis of ILD in pa- and fatigability to minimal efforts. Respiratory rate tients