High concentration of middle chain fatty acid in a case of Duchenne muscular dystrophy with severe mental retardation

We report on a male child with Duchenne muscular dystrophy (DMD) accompanied by a chromosomal anomaly, who showed serious developmental delay and anomalies. His clinical features were not typical of DMD and the levels of middle chain fatty acid in his cerebrospinal fluid were high. Informed consent for this report was obtained from the parents. Case A 2-month-old boy was admitted because of fever and rash and was treated under the diagnosis of Kawasaki disease.At that time a developmental delay (he was unable to smile or follow moving targets) and hypotonia was found. His uncle showed hypotonia at birth, was diagnosed with DMD and died at the age of 20 of respiratory failure due to aspiration pneumonia. The presented patient was born as appropriate for date (his weight was 2156 g at 35 weeks) and kept in incubator because of apnea. His Apgar

[1]  Robert F McCormack,et al.  Pott's puffy tumor and epidural abscess arising from pansinusitis. , 2011, The Journal of emergency medicine.

[2]  S. Schwartz,et al.  Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype. , 2011, European journal of medical genetics.

[3]  M. L. Cooper,et al.  Mixed gonadal dysgenesis in a child with isodicentric y chromosome: Does the relative proportion of the 45,X line really matter? , 2010, American journal of medical genetics. Part A.

[4]  Alfredo Brusco,et al.  Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations , 2010, Haematologica.

[5]  A. Agarwal,et al.  Early Adolescent Nutritional Rickets , 2009, Journal of orthopaedic surgery.

[6]  K. Fujieda,et al.  Prevalence and risk factors of vitamin D deficiency rickets in Hokkaido, Japan , 2009, Pediatrics international : official journal of the Japan Pediatric Society.

[7]  Jack R Engsberg,et al.  Changes in dynamic trunk/head stability and functional reach after hippotherapy. , 2009, Archives of physical medicine and rehabilitation.

[8]  D. Debuse,et al.  Effects of hippotherapy on people with cerebral palsy from the users’ perspective: A qualitative study , 2009, Physiotherapy theory and practice.

[9]  L. Shekerdemian,et al.  The monitoring of venous saturations of oxygen in children with congenitally malformed hearts , 2009, Cardiology in the Young.

[10]  M. Ranucci,et al.  Continuous monitoring of central venous oxygen saturation (Pediasat) in pediatric patients undergoing cardiac surgery: a validation study of a new technology. , 2008, Journal of cardiothoracic and vascular anesthesia.

[11]  C. Wagner,et al.  Prevention of Rickets and Vitamin D Deficiency in Infants, Children, and Adolescents , 2008, Pediatrics.

[12]  M. Misra,et al.  Vitamin D Deficiency in Children and Its Management: Review of Current Knowledge and Recommendations , 2008, Pediatrics.

[13]  K. Kayaba,et al.  Increasing incidence of Kawasaki disease in Japan: Nationwide survey , 2008, Pediatrics international : official journal of the Japan Pediatric Society.

[14]  R. Meeder,et al.  Transient Erythroblastopenia of Childhood in Siblings: Case Report and Review of the Literature , 2007, Journal of pediatric hematology/oncology.

[15]  Nguyễn Thế Dũng,et al.  Seven different glucose-6-phosphate dehydrogenase variants including a new variant distributed in Lam Dong Province in southern Vietnam. , 2007, Acta medica Okayama.

[16]  M. Karçaaltıncaba,et al.  Paediatric multidetector CT angiography: spectrum of congenital thoracic vascular anomalies. , 2007, The British journal of radiology.

[17]  J. Inazawa,et al.  Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis , 2007, Journal of Human Genetics.

[18]  Y. Sadovsky,et al.  Fetal Heart Rate Accelerations and the Risk of Cerebral Lesions and Poor Neurodevelopmental Outcome in Very Low Birthweight Neonates , 2007, American journal of perinatology.

[19]  Nicol Korner-Bitensky,et al.  Horseback Riding as Therapy for Children with Cerebral Palsy , 2007, Physical & occupational therapy in pediatrics.

[20]  John A Sterba,et al.  Does horseback riding therapy or therapist‐directed hippotherapy rehabilitate children with cerebral palsy? , 2006, Developmental medicine and child neurology.

[21]  M. Pusic,et al.  Hypocalcemic Seizures and Secondary Bilateral Femoral Fractures in an Adolescent With Primary Vitamin D Deficiency , 2006, Pediatrics.

[22]  G. Solanki,et al.  The Pott puffy tumor revisited: neurosurgical implications of this unforgotten entity. Case report and review of the literature. , 2006, Journal of neurosurgery.

[23]  B. Hollis,et al.  Vitamin D Deficiency in Breastfed Infants in Iowa , 2006, Pediatrics.

[24]  K. Reinhart,et al.  Venous oximetry , 2006, Intensive care medicine.

[25]  K. McHugh,et al.  Imaging of conjoined twins , 2006, Pediatric Radiology.

[26]  B. Liu,et al.  Effect of human cytomegalovirus on proliferation of hematopoietic progenitor cells of cord blood. , 2006, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

[27]  D. Bettio,et al.  Clinical and molecular cytogenetic studies in three infertile patients with mosaic rearranged Y chromosomes. , 2006, Human reproduction.

[28]  M. Schleiss,et al.  Forehead swelling caused by Pott's puffy tumor in a 9‐year‐old boy with sinusitis , 2005, Pediatrics international : official journal of the Japan Pediatric Society.

[29]  R. Stevenson,et al.  Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies , 2005, Cytogenetic and Genome Research.

[30]  S. Nicolson,et al.  Evaluation of tissue saturation as a noninvasive measure of mixed venous saturation in children , 2005, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

[31]  J. Pettifor.  Rickets and vitamin D deficiency in children and adolescents. , 2005, Endocrinology and metabolism clinics of North America.

[32]  E. Jauniaux,et al.  First‐trimester diagnosis of conjoined twins , 2005, Prenatal diagnosis.

[33]  C. Cowell,et al.  The re-emerging burden of rickets: a decade of experience from Sydney , 2005, Archives of Disease in Childhood.

[34]  Stephen B. Thomas,et al.  Reemerging nutritional rickets: a historical perspective. , 2005, Archives of pediatrics & adolescent medicine.

[35]  L. Ward.  Vitamin D deficiency in the 21st century: a persistent problem among Canadian infants and mothers , 2005, Canadian Medical Association Journal.

[36]  T. Kamiya,et al.  Dilated coronary arterial lesions in the late period after Kawasaki disease , 2005, Heart.

[37]  S. Ladhani,et al.  Presentation of vitamin D deficiency , 2004, Archives of Disease in Childhood.

[38]  L. Atkinson.  Ethics and conjoined twins , 2004, Child's Nervous System.

[39]  L. Spitz,et al.  Management of pyopagus conjoined twins , 2004, Child's Nervous System.

[40]  P. Alpert,et al.  Practices of Vitamin D Recommendation in Las Vegas, Nevada , 2004, Journal of human lactation : official journal of International Lactation Consultant Association.

[41]  S. Andronikou,et al.  Spinal cord involvement in pygopagus conjoined twins: case report and review of the literature , 2003, Child's Nervous System.

[42]  G. Conway,et al.  A comparative study between infertile males and patients with Turner syndrome to determine the influence of sex chromosome mosaicism and the breakpoints of structurally abnormal Y chromosomes on phenotypic sex , 2002, Journal of medical genetics.

[43]  J. Burns.  Commentary: translation of Dr. Tomisaku Kawasaki's original report of fifty patients in 1967. , 2002, The Pediatric infectious disease journal.

[44]  W. Poon,et al.  Pott's puffy tumour. , 2002, Hong Kong medical journal = Xianggang yi xue za zhi.

[45]  K. Yamakawa,et al.  The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. , 2002, American journal of human genetics.

[46]  A. Kreuger,et al.  Transient Erythroblastopenia of Childhood: Prospective Study of 10 Patients With Special Reference to Viral Infections , 2002, Journal of pediatric hematology/oncology.

[47]  W. Vogel,et al.  A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution? , 2001, Trends in genetics : TIG.

[48]  K. Miura,et al.  [Central nervous system involvements in Duchenne/Becker muscular dystrophy]. , 2001, No to hattatsu = Brain and development.

[49]  C. Nathan,et al.  Pott's Puffy Tumor and Epidural Abscess Arising From Dental Sepsis: A Case Report , 2001, The Laryngoscope.

[50]  K. McHugh,et al.  Imaging in the preoperative assessment of conjoined twins. , 2001, Radiographics : a review publication of the Radiological Society of North America, Inc.

[51]  A. Cohen,et al.  Intracranial Complications of Frontal Sinusitis in Children: Pott’s Puffy Tumor Revisited , 2001, Pediatric Neurosurgery.

[52]  A. Pasquino,et al.  Recommendations for the diagnosis and management of Turner syndrome. , 2001, The Journal of clinical endocrinology and metabolism.

[53]  J. Pearn.  Bioethical issues in caring for conjoined twins and their parents , 2001, The Lancet.

[54]  H. Narchi,et al.  Symptomatic rickets in adolescence , 2001, Archives of disease in childhood.

[55]  P. Stankiewicz,et al.  Cytogenetic and molecular characterization of two isodicentric Y chromosomes. , 2001, American journal of medical genetics.

[56]  A. Goldberg,et al.  Complications of frontal sinusitis and their management. , 2001, Otolaryngologic clinics of North America.

[57]  C. Gravholt,et al.  Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. , 2000, The Journal of clinical endocrinology and metabolism.

[58]  C. Yutani,et al.  Remodeling of coronary artery lesions due to Kawasaki disease: comparison of arteriographic and immunohistochemical findings. , 2000, Japanese heart journal.

[59]  M. Mehler.  Brain dystrophin, neurogenetics and mental retardation , 2000, Brain Research Reviews.

[60]  Peter Gustavsson,et al.  The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia , 1999, Nature Genetics.

[61]  N. Chaoui,et al.  Transient neonatal cholestasis: origin and outcome. , 1998, The Journal of pediatrics.

[62]  TomioKobayashi,et al.  Giant Coronary Aneurysm of Kawasaki Disease Developing During Postacute Phase , 1998 .

[63]  O. Evgrafov,et al.  PCR detection of Y-specific sequences in patients with Ullrich-Turner syndrome: clinical implications and limitations. , 1998, American journal of medical genetics.

[64]  T. Karl,et al.  Early markers of major adverse events in children after cardiac operations. , 1997, The Journal of thoracic and cardiovascular surgery.

[65]  M. Decurtis,et al.  Cholestasis in newborn infants with perinatal asphyxia , 1997, Acta paediatrica.

[66]  J. Jordan,et al.  Transient erythroblastopenia of childhood associated with human herpesvirus type 6, variant B. , 1997, American journal of clinical pathology.

[67]  K Hashino,et al.  Long-term consequences of Kawasaki disease. A 10- to 21-year follow-up study of 594 patients. , 1996, Circulation.

[68]  C. Broeckhoven,et al.  Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency , 1996, Neuromuscular Disorders.

[69]  J. V. van Dellen,et al.  Sinogenic intracranial complications , 1995, The Journal of Laryngology & Otology.

[70]  L. Hsu,et al.  Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. , 1994, American journal of medical genetics.

[71]  R. Hall,et al.  Mixed venous oxygenation in critically ill neonates , 1994, Critical care medicine.

[72]  H. Rt,et al.  Mixed venous oxygenation in critically ill neonates. , 1994 .

[73]  B. Broecker,et al.  Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia , 1993, Clinical genetics.

[74]  G. Skeppner,et al.  Transient erythroblastopenia of childhood in Sweden: incidence and findings at the time of diagnosis , 1993, Acta paediatrica.

[75]  T. Matsubara,et al.  Coronary Arterial Calcification in Kawasaki Disease , 1991, Acta paediatrica Japonica : Overseas edition.

[76]  B. Hollis,et al.  Racial pigmentation and the cutaneous synthesis of vitamin D. , 1991, Archives of dermatology.

[77]  S. Erdman,et al.  Neonatal hepatitis and extrahepatic biliary atresia associated with cytomegalovirus infection in twins. , 1991, American journal of diseases of children.

[78]  G. Clayman,et al.  Intracranial complications of paranasal sinusitis: A combined institutional review , 1991, The Laryngoscope.

[79]  D. Gilchrist,et al.  Turner syndrome and its variants. , 1990, Pediatric clinics of North America.

[80]  J. Lilleyman,et al.  TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOOD DUE TO HUMAN PARVOVIRUS B19 INFECTION , 1989, British journal of haematology.

[81]  M. Linares,et al.  CYTOMEGALOVIRUS INFECTION AND APLASTIC CRISIS IN GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY , 1987, The Lancet.

[82]  M. Freedman,et al.  Transient erythroblastopenia of childhood: Varied pathogenesis , 1983, American journal of hematology.

[83]  W. Jamieson,et al.  Continuous monitoring of mixed venous oxygen saturation in cardiac surgery. , 1982, Canadian journal of surgery. Journal canadien de chirurgie.

[84]  H. Kato,et al.  Fate of coronary aneurysms in Kawasaki disease: serial coronary angiography and long-term follow-up study. , 1982, The American journal of cardiology.

[85]  D. Davis,et al.  Transient erythroblastopenia. , 1982, Pediatrics.

[86]  P. Ahmann,et al.  Clinical predictability of intraventricular hemorrhage in preterm infants. , 1980, Pediatrics.

[87]  H. Yanagawa,et al.  A new infantile acute febrile mucocutaneous lymph node syndrome (MLNS) prevailing in Japan. , 1974, Pediatrics.

[88]  J. R. Chandler,et al.  The pathogenesis of orbital complications in acute sinusitis , 1970, The Laryngoscope.

[89]  E. Brandstrup,et al.  Foetal and neonatal mortality. , 1947, Lancet.

[90]  C. Chiu,et al.  Pott’s puffy tumor in children , 2009, Child's Nervous System.

[91]  H. Mochizuki,et al.  Mental retardation and lifetime events of Duchenne muscular dystrophy in Japan. , 2008, Internal medicine.

[92]  D. Nichols-Larsen,et al.  The Effect of Hippotherapy on Ten Children with Cerebral Palsy , 2004, Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association.

[93]  M. Davenport,et al.  Pediatrician patterns of prescribing vitamin supplementation for infants: do they contribute to rickets? , 2004, Pediatrics.

[94]  W. Stuberg.  Smithʼs Recognizable Patterns of Human Malformation, 5th ed , 2001 .

[95]  R. Brown,et al.  Variations in prudent laypersons' perceptions of the need for emergent medical care. , 2000, The Journal of emergency medicine.

[96]  T. Kosuda,et al.  Images in cardiovascular medicine. Giant coronary aneurysm of Kawasaki disease developing during postacute phase. , 1998, Circulation.

[97]  R. Snoeck,et al.  Decreased production of cytokines after cytomegalovirus infection of marrow-derived stromal cells. , 1994, Experimental hematology.

[98]  R. F. Davis,et al.  Continuous venous oximetry in surgical patients. , 1987, Annals of surgery.