Patient management problem-preferred responses

Following are the preferred responses for the Patient Management Problem in this CONTINUUM issue. The case, questions, and answer options are repeated, and the preferred response appears in bold print, followed by an explanation and a reference with which you may seek more specific information. You are encouraged to review the responses and explanations carefully to evaluate your general understanding of the material. The comment and references included with each question are intended to encourage independent study

Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia

Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males. Major cardiovascular and diaphragmatic anomalies are uncommon in this syndrome. Here we report an infant with KS who had tetralogy of Fallot and congenital diaphragmatic hernia, all of which were identified prenatally and managed successfully after birth. Microarray analysis did not reveal any deletions or duplications other than the additional X-chromosome, to account for the additional abnormalities in this infant. To the authors' knowledge, this is the first such report of major cardiac and diaphragm anomaly occurring together, in an infant with KS

Macrocephaly-capillary malformation: a report of three cases and review of the literature

Macrocephaly-Cutis Marmorata Telangiectatica Congenita (M-CMTC) is a rare syndrome that was first delineated as distinct from Cutis Marmorata Telangiectatica Congenita (CMTC) in 1997. Since that time, there have been over 75 cases reported in the literature, though few are in the dermatology literature. The syndrome is characterized by macrocephaly, neonatal hypotonia, developmental delay, segmental overgrowth, syndactyly, asymmetry, connective tissue defects, and vascular stains. We report three new patients seen at the University of Miami Genodermatoses Clinic with features of M-CMTC. We believe the skin findings in our patients and in the previously published cases of M-CMTC are more consistent with capillary malformations rather than true CMTC. Therefore, we agree with recent publications that this condition be renamed Macrocephaly-Capillary Malformation (M-CM). The differential diagnoses for patients with M-CMTC include Klippel Trenaunay Syndrome (KTS) and Proteus or Proteus-like syndromes. Given the significant prognostic and likely genetic differences among these conditions it is important to distinguish M-CMTC from these syndromes

Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis

Hypertrophic cardiomyopathy (HCM) is the second most prevalent form of cardiomyopathy in children. The etiology of the HCM is heterogeneous, so is the age of onset of symptoms. The HCM associated with metabolic disorders and genetic syndromes presents early in childhood. There are very few case reports of early-onset infantile HCM secondary to the PRKAG2 gene. Here, we report a case of HCM in a neonate diagnosed prenatally and eventually diagnosed with a missense mutation in the PRKAG2 gene

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: Analysis of eight sibling pairs

Sanofi Co, Genzyme, Cambridge, MA USAJohns Hopkins Aramco Healthcare, Dhahran, Saudi ArabiaUniv Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USARobert Boulin Hosp, Serv Pediat, Libourne, FrancePellegrin Hosp, CHU Bordeaux, Genet Serv, Bordeaux, FranceChildrens Hosp Cordoba, Metab Sect, Cordoba, ArgentinaUniv Manchester, St Marys Hosp, Manchester Ctr Genom Med, CMFT, Manchester M13 0JH, Lancs, EnglandUniversidade Federal de São Paulo, Reference Ctr Inborn Errors Metab, São Paulo, BrazilBrown Univ, Dept Pediat, Div Human Genet, Hasbro Childrens Hosp, Providence, RI 02912 USAGen Hosp Segovia, Div Pediat, Segovia, SpainUniv Bordeaux, Bordeaux, FranceUniversidade Federal de São Paulo, Reference Ctr Inborn Errors Metab, São Paulo, BrazilWeb of Scienc