Przypadek nieleczonego zespołu Dandy’ego–Walkera Opis przypadku
##plugins.themes.bootstrap3.article.sidebar##
Opublikowane:
gru 31, 2013
Słowa kluczowe:
zespół Dandy’ego–Walkera, zespół Hakima, zaburzenia nastroju
##plugins.themes.bootstrap3.article.main##
Abstrakt
Pacjent, lat 47, został przyjęty na oddział psychiatrii w celu diagnostyki i leczenia zaburzeń nastroju, głównie obniżonego nastroju. Dokładniejsze badanie neurologiczne i analiza historii choroby pacjenta wykazały nieleczony zespół Dandy’ego–Walkera, będący przyczyną wodogłowia niekomunikującego, deformacji czaszki, padaczki oraz podwzgórzycy, w której konsekwencji rozwinęły się otyłość i cukrzyca typu 2. Z kolei napady padaczkowe powodowały częste urazy głowy i prawdopodobnie wodogłowie komunikujące (zespół Hakima). Występowała typowa triada objawów zespołu Hakima: zaburzenia nastroju z niesprawnością poznawczą, zaburzenia chodu z ataksją kończyn dolnych oraz częstomocz z nietrzymaniem moczu. Wcześniejsza diagnoza i odpowiednie leczenie mogłyby zachować zdrowie pacjenta i zmienić całe jego życie.
##plugins.themes.bootstrap3.article.details##
Numer
Dział
Artykuły
Utwór dostępny jest na licencji Creative Commons Uznanie autorstwa – Użycie niekomercyjne – Bez utworów zależnych 4.0 Międzynarodowe.
Copyright: © Medical Education sp. z o.o. License allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
Address reprint requests to: Medical Education, Marcin Kuźma (marcin.kuzma@mededu.pl)
Bibliografia
1. Prusiński A. Neurologia praktyczna. Wyd. 1. Wydawnictwo Lekarskie PZWL, Warszawa 2001.
2. Wada T, Kazui H, Yamamoto D. Reversibility of brain morphology after shunt operations and preoperative clinical symptoms in patients with idiopathic normal pressure hydrocephalus. Psychogeriatrics 2013; 13(1): 41-48.
3. Kazui H, Mori E, Ohkawa S et al. Predictors of the disappearance of triad symptoms in patients with idiopathic normal pressure hydrocephalus after shunt surgery. Neurol Sci 2013; 328(1-2): 64-69.
4. Malm J, Graff-Radford NR, Ishikawa M et al. Influence of comorbidities in idiopathic normal pressure hydrocephalus – research and clinical care. A report of the ISHCSF task force on comorbidities in INPH. Fluids Barriers CNS 2013; 10(1): 22.
5. Dyment DA, Sawyer SL, Chardon JW et al. Recent advances in the genetic etiology of brain malformation. Curr Neurol Neurosci Rep 2013; 13(8): 364.
6. Guilherme RS, Kim CA, Alonso LG et al. Ring chromosome 10: report on two patients and review of the literature. J Appl Genet 2013; 54(1): 35-41.
7. Liao C, Fu F, Li R et al. Prenatal diagnosis and molecular characterization of a novel locus for Dandy-Walker malformation on chromosome 7p21.3. Eur J Med Genet 2012; 55(8-9): 472-475.
8. Guibaud L, Larroque A, Ville D et al. Prenatal diagnosis of ‘isolated’ Dandy-Walker malformation: imaging findings and prenatal counselling. Prenat Diagn 2012; 32(2): 185-193.
9. Jung SH, Shim SH, Park SH et al. Prenatal diagnosis of partial trisomy 3q resulting from t(3;14) in a fetus with multiple anomalies including vermian hypoplasia. Gene 2012; 498(2): 237-241.
10. Liao C, Fu F, Li R et al. [Dandy-Walker syndrome and microdeletions on chromosome 7]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2012; 29(1): 48-51.
11. Zanni G, Barresi S, Travaglini L et al. FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion. Neurogenetics 2011; 12(3): 241-245.
12. Chen CP, Chen M, Su YN et al. Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3- pter) and partial monosomy 13q (13q33.3-qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly. Taiwan Obstet Gynecol 2010; 49(3): 320-326.
13. Lim FF, Ng YY, Hu JM et al. Ocular findings in a case of trisomy 18 with variant of Dandy-Walker syndrome. Pediatr Neonatol 2010; 51(5): 292-295.
14. Mademont-Soler I, Morales C, Armengol L et al. Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32). Am J Med Genet A 2010; 152A(9): 2308-2312.
15. Aldinger KA, Lehmann OJ, Hudgins L et al. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet 2009; 41(9): 1037-1042.
16. Nakanishi A, Fukunaga I, Hori M et al. Microstructural changes of the corticospinal tract in idiopathic normal pressure hydrocephalus: a comparison of diffusion tensor and diffusional kurtosis imaging. Neuroradiology 2013; 55(8): 971-6.
17. Forner Ginter J, Sanz-Requena R, Florez N et al. Quantitative phase-contrast MRI study of cerebrospinal fluid flow: A method for identifying patients with normal-pressure hydrocephalus. Neurologia 2013; S0213-4853(13).
18. Calcagni ML, Taralli S, Mangiola A et al. Regional cerebral metabolic rate of glucose evaluation and clinical assessment in patients with idiopathic normal-pressure hydrocephalus before and after ventricular shunt placement: a prospective analysis. Clin Nucl Med 2013; 38(6): 426-431.
19. De Oliveira MF, Saad F, Reis RC et al. Programmable valve represents an efficient and safe tool in the treatment of idiopathic normal-pressure hydrocephalus patients. Arq Neuropsiquiatr 2013; 71(4): 229-236.
20. Wada T, Kazui H, Yamamoto D et al. Reversibility of brain morphology after shunt operations and preoperative clinical symptoms in patients with idiopathic normal pressure hydrocephalus. Psychogeriatrics 2013; 13(1): 41-48.
21. Darbro BW, Mahajan VB, Gakhar L et al. Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Hum Mutat 2013; 34(8): 1075-1079.
22. Yamasaki M, Nonaka M, Bamba Y et al. Diagnosis, treatment and long-term outcomes of fetal hydrocephalus. Semin Fetal Neonatal Med 2012; 17(6): 330-335.
23. Jha VC, Kumar R, Srivastav AK et al. A case series of 12 patients with incidental asymptomatic Dandy-Walker syndrome and management. Childs Nerv Syst 2012; 28(6): 861-867.
24. Ryan M, Grenier E, Castro A et al. New-onset psychosis associated with Dandy-Walker variant. J Neuropsychiatry Clin Neurosci 2012; 24(2): 241-246.
25. Warf BC, Dewan M, Mugamba J. Management of Dandy-Walker complex-associated infant hydrocephalus by combined endoscopic third ventriculostomy and choroid plexus cauterization. Pediatr Neurosurg 1992; 18(4): 179-189.
26. Osenbach RK, Menezes AH. Diagnosis and management of the Dandy-Walker malformation: 30 years of experience. Pediatric Neurosurgery 1992; 18(4): 179-189.
27. Aimua F, Dunn NR, Swiff RG. Dandy-Walker variant with treatment- resistant bipolar disorder. Neuropsychiatry Clinical Neuroscience 2012; 24(1): E50-E50.
28. Rowland LP. Merritt’s Neurology. t. I. Elsevier Urban & Partner, Wrocław 2008: 362.
2. Wada T, Kazui H, Yamamoto D. Reversibility of brain morphology after shunt operations and preoperative clinical symptoms in patients with idiopathic normal pressure hydrocephalus. Psychogeriatrics 2013; 13(1): 41-48.
3. Kazui H, Mori E, Ohkawa S et al. Predictors of the disappearance of triad symptoms in patients with idiopathic normal pressure hydrocephalus after shunt surgery. Neurol Sci 2013; 328(1-2): 64-69.
4. Malm J, Graff-Radford NR, Ishikawa M et al. Influence of comorbidities in idiopathic normal pressure hydrocephalus – research and clinical care. A report of the ISHCSF task force on comorbidities in INPH. Fluids Barriers CNS 2013; 10(1): 22.
5. Dyment DA, Sawyer SL, Chardon JW et al. Recent advances in the genetic etiology of brain malformation. Curr Neurol Neurosci Rep 2013; 13(8): 364.
6. Guilherme RS, Kim CA, Alonso LG et al. Ring chromosome 10: report on two patients and review of the literature. J Appl Genet 2013; 54(1): 35-41.
7. Liao C, Fu F, Li R et al. Prenatal diagnosis and molecular characterization of a novel locus for Dandy-Walker malformation on chromosome 7p21.3. Eur J Med Genet 2012; 55(8-9): 472-475.
8. Guibaud L, Larroque A, Ville D et al. Prenatal diagnosis of ‘isolated’ Dandy-Walker malformation: imaging findings and prenatal counselling. Prenat Diagn 2012; 32(2): 185-193.
9. Jung SH, Shim SH, Park SH et al. Prenatal diagnosis of partial trisomy 3q resulting from t(3;14) in a fetus with multiple anomalies including vermian hypoplasia. Gene 2012; 498(2): 237-241.
10. Liao C, Fu F, Li R et al. [Dandy-Walker syndrome and microdeletions on chromosome 7]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2012; 29(1): 48-51.
11. Zanni G, Barresi S, Travaglini L et al. FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion. Neurogenetics 2011; 12(3): 241-245.
12. Chen CP, Chen M, Su YN et al. Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3- pter) and partial monosomy 13q (13q33.3-qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly. Taiwan Obstet Gynecol 2010; 49(3): 320-326.
13. Lim FF, Ng YY, Hu JM et al. Ocular findings in a case of trisomy 18 with variant of Dandy-Walker syndrome. Pediatr Neonatol 2010; 51(5): 292-295.
14. Mademont-Soler I, Morales C, Armengol L et al. Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32). Am J Med Genet A 2010; 152A(9): 2308-2312.
15. Aldinger KA, Lehmann OJ, Hudgins L et al. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet 2009; 41(9): 1037-1042.
16. Nakanishi A, Fukunaga I, Hori M et al. Microstructural changes of the corticospinal tract in idiopathic normal pressure hydrocephalus: a comparison of diffusion tensor and diffusional kurtosis imaging. Neuroradiology 2013; 55(8): 971-6.
17. Forner Ginter J, Sanz-Requena R, Florez N et al. Quantitative phase-contrast MRI study of cerebrospinal fluid flow: A method for identifying patients with normal-pressure hydrocephalus. Neurologia 2013; S0213-4853(13).
18. Calcagni ML, Taralli S, Mangiola A et al. Regional cerebral metabolic rate of glucose evaluation and clinical assessment in patients with idiopathic normal-pressure hydrocephalus before and after ventricular shunt placement: a prospective analysis. Clin Nucl Med 2013; 38(6): 426-431.
19. De Oliveira MF, Saad F, Reis RC et al. Programmable valve represents an efficient and safe tool in the treatment of idiopathic normal-pressure hydrocephalus patients. Arq Neuropsiquiatr 2013; 71(4): 229-236.
20. Wada T, Kazui H, Yamamoto D et al. Reversibility of brain morphology after shunt operations and preoperative clinical symptoms in patients with idiopathic normal pressure hydrocephalus. Psychogeriatrics 2013; 13(1): 41-48.
21. Darbro BW, Mahajan VB, Gakhar L et al. Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Hum Mutat 2013; 34(8): 1075-1079.
22. Yamasaki M, Nonaka M, Bamba Y et al. Diagnosis, treatment and long-term outcomes of fetal hydrocephalus. Semin Fetal Neonatal Med 2012; 17(6): 330-335.
23. Jha VC, Kumar R, Srivastav AK et al. A case series of 12 patients with incidental asymptomatic Dandy-Walker syndrome and management. Childs Nerv Syst 2012; 28(6): 861-867.
24. Ryan M, Grenier E, Castro A et al. New-onset psychosis associated with Dandy-Walker variant. J Neuropsychiatry Clin Neurosci 2012; 24(2): 241-246.
25. Warf BC, Dewan M, Mugamba J. Management of Dandy-Walker complex-associated infant hydrocephalus by combined endoscopic third ventriculostomy and choroid plexus cauterization. Pediatr Neurosurg 1992; 18(4): 179-189.
26. Osenbach RK, Menezes AH. Diagnosis and management of the Dandy-Walker malformation: 30 years of experience. Pediatric Neurosurgery 1992; 18(4): 179-189.
27. Aimua F, Dunn NR, Swiff RG. Dandy-Walker variant with treatment- resistant bipolar disorder. Neuropsychiatry Clinical Neuroscience 2012; 24(1): E50-E50.
28. Rowland LP. Merritt’s Neurology. t. I. Elsevier Urban & Partner, Wrocław 2008: 362.