Background. Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant skeletal dysplasia caused by defects involving the TRPS1 gene. Three types (TRPSs I, II, and III) have been described, exhibiting the common triad of hair, craniofacial, and skeletal abnormalities. TRPS II includes the additional characteristics of mental retardation and multiple exostoses. Case Report. We describe a sporadic case of TRPS type I in a child with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity—c.1198C>T (p. Gln400X) and c.2086C>T (p.Arg696X). None of these mutations were found in her parents. Clinical presentation included typical hair and facial features, as well as slight skeletal abnormalities. Discussion. There is a wide variability in clinical expression of TRPS I. Manifestations of the disease can be subtle, yet skeletal anomalies imply that TRPS I is more than an esthetic problem. Clinical and genetic diagnosis allows adequate followup and timely therapeutic procedures. When a single mutation was sufficient for the onset of the disease, our patient presented two different ones.
Background. Neurofibromatosis type 1 is a multisystemic, progressive disease, with an estimated incidence of 1/3500-2500. Mitochondrial diseases are generally multisystemic and may be present at any age, and the global prevalence is 1/8500. The diagnosis of these disorders is complex because of its clinical and genetic heterogeneity. Case Report. We present a rare case of the association of these two different genetic diseases, in which a heterozygous missense mutation in the NF1 gene was identified which had not yet been described (p.M1149 V). Additionally, the patient is suspected of carrying an unspecified mutation causing respiratory chain complex I deficiency. Clinical presentation included hypotonia, global development delay, reduced growth rate, progressive microcephaly, and numerous café-au-lait spots. Discussion. To the best of our knowledge this is the first report of complex I deficiency in a patient with neurofibromatosis type 1. It is very important to maintain a high index of suspicion for the diagnosis of mitochondrial disorders. In this patient, both the laboratory screening and muscle histology were normal and only the biochemical study of muscle allowed us to confirm the diagnosis.
IntroductionIn the past, pertussis affected particularly children under 6 years of age, but recent trends show that there is a shift toward the older age group. The clinical presentation can be atypical in the adolescent age group, and the disease is often misdiagnosed.Case presentationWe present a case of an 11-year-old male patient oriented to our unit with anorexia, weight loss and persistent cough with nocturnal paroxysms for 4 weeks. He also reported occasional wheezing and chest tightness. He denied fever, chills, myalgia, sore throat, or rhinorrhea. The patient presented to his primary care physician 1 week prior with the same complaint and was treated with amoxicillin and ebastine. Facing the persistence of the complaints he was oriented to our unit in order to exclude tuberculosis. Further study confirmed Bordetella pertussis infection and he started clarithromycin (15 mg/kg/day for 14 days). The patient's symptoms resolved after two weeks. Two of the patient's family members have developed symptoms of Bordetella pertussis infection and were treated after convenient study.ConclusionCough is one of the most common complaints among children and its causes are multiple. Active immunization and early diagnosis are crucial in the management of pertussis.
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