A 4‐Year‐Old Amish Boy With Weakness, Arthritis, Rash, Verbal Delay, and Failure to Thrive

Abstract

A 4-year-old Amish boy presented with a 12-month history of a purplish rash on his fingers and toes. History of the present illness: part 1The patient was in his usual state of health until March 2010, when he developed purplish discoloration with nodules on his fingers and toes. Over the next few months, he was noted to have progressive weakness with poor appetite, fatigue, and headache. Medical care was sought for these symptoms and he was initially diagnosed with a viral illness and subsequently with streptococcal pharyngitis. He had been noted to have delayed speech development in comparison with his 7 siblings.Medical history. The patient has a history of asthma that is managed with fluticasone propionate. His family reported that he has always been small for his age. Except for verbal delays, he has otherwise been developmentally normal.Family and social history. The patient's family history was negative for rheumatic disorders. They denied consanguinity. He has 4 cousins with Cohen syndrome. He lives on a farm with his parents and 7 older siblings. Review of systems.The family reported that he had increased sleep requirement, occasional wheeze, pain in his shins, headaches (4 -5 times in a month), and easy bruising. They denied fever, abdominal pain, nausea, vomiting, or diarrhea.Initial physical examination. Physical examination was notable for short stature (less than third percentile), shotty cervical lymphadenopathy, livedo reticularis, purplish hue over the upper eyelids, nodular vasculitic rash on his fingers and toes, hypohidrosis of the feet, and dry skin throughout. He had difficulty rising up from the floor, but did not have Gowers' sign. He had effusions in the right wrist; the bilateral second, right fourth, and third proximal interphalangeal joints of the fingers; and both knees.Diagnostic evaluation. Recommendations were given for skin biopsy as well as complete blood count (CBC) with differential cell count, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) level, comprehensive metabolic panel, thyroid-stimulating hormone (TSH), free thyroxine (FT4), antinuclear antibody (ANA) with extractable nuclear antigens, complement C3 and C4, urinalysis, urine protein-to-creatinine ratio, antistreptolysin O, anti-DNase B antibody, antineutrophil cytoplasmic antibody (ANCA), lysozyme, lactate dehydrogenase, uric acid, lupus anticoagulant, anticardiolipin antibodies, and cryoglobulins. Despite multiple discussions with the family, they did not comply with the recommendations for further investigation and monitoring, and chose to see a homeopathic physician.