Pediatric Department, Faculty of Medicine, Ain Shams University, EgyptReceived 1 October 2010; accepted 1 November 2010Educational case of the issueA 1 year old male infant is brought to the pediatrician by hismother because of a copious nasal discharge and developmen-tal delay. He is noted to have coarse features with thick lips, alarge tongue, a large bulging head and a flattened nose. Onexamination he is found to have an enlarged liver and spleen.His perinatal history was unremarkable. He was born by nor-mal vaginal delivery and was examined and thought to be nor-mal at birth.A likely diagnosis is:(a) Osteopetrosis.(b) b thalassemia.(c) Achondroplasia.(d) Hurler’s syndrome.(e) Rickets.Diagnosis is (d) Hurler’s syndromeExamples of other case presentations with Hurler’s syndromeClinical presentation [1]A 3 year old female presented in an outpatient Pediatric Clinicwith persistent nasal discharge and progressive abdominalenlargement of 2 years and 8 months duration. Other associ-ated problems included delayed speech development, hearingimpairment, and knock knees. At 6 months of age, her parentsobserved she did not look normal hence they confined her in-doors most of the time. None of her other siblings (four) hadsimilar problems. On examination she had coarse facies withfrontal bossing, bilateral corneal clouding and depressed nasalbridge. She had copious nasal discharge. Her apex beat was atthe fifth left intercostal space lateral to the mid clavicular line.Auscultation of the lung fields yielded transmitted sounds. Theabdomen was distended with hepatomegaly of 6 cm below thecostal margin in the midclavicular line. She also had short stur-dy fingers, swelling of both wrists, kyphoscoliosis, and bilateralgenu valgus [1].What was the diagnosis of this case?A clinical diagnosis of Hurler’s syndrome was made. Urinaryglycosaminoglycans level could not be obtained in the reportedcase but alkaline phosphatase level was raised. There were clas-sical radiological features both of Hurler’s syndrome and rick-ets. She had vitamin D replacement therapy but abscondedfrom follow up. A search for this association of Hurler’s syn-drome with rickets was not easily available in documented lit-erature hence the need to publish it [1].Clinical presentation [2]A 2-year-old patient with Hurler’s syndrome underwentbone marrow transplantation. Although the bone marrowtransplantation improved many of the systemic effects of Hur-ler’s syndrome, the patient presented at 8 years of age with acervical myelopathy. Magnetic resonance imaging revealedsoft tissue compression of the upper cervical cord. The litera-ture review demonstrates that spastic tetraparesis, secondaryto cervical cord compression, is the most common presentationof this subgroup of patients.