Letters to Editor
these patients were all reported from Argentina and they were aged 8 months, 17 months, 2 years, 3 years, 6 years, 6 years, 9 years and 22 years. The male:female (M:F) ratio was 6:2. In all cases, the lateral ventricles appeared butterfly‑shaped on coronal views at the level of the atria, very similar to the present case. The features consistently observed were non‑myelination in the juxtaventricular white matter, decreased volume of the posterior third of the corpus callosum, squaring of the posterior cap of the lateral ventricles and irregular contour of the ventricular walls. Additionally, the Sylvian fissures were deep and almost extended to the lateral ventricles. All these eight children had severe psychomotor retardation. However, unfortunately genetic studies could not be done in these patients due to financial constraints. The specific genetic associations underlying this neuroimaging pattern may be further elucidated by future case reports. In conclusion, we report an unusual neuroimaging pattern in a patient with a 19.1 Mb deletion in chromosome 7 spanning 7q22.1‑q31.31 who has severe developmental delay. The exact prevalence and significance of this observed genetic and neuroimaging association is still unclear but can be further clarified with future similar observation and reports. Suji Velayuthan, Amber Dawson1, Rosario Maria S. Riel‑Romero2, Eduardo Gonzalez‑Toledo3 Departments of 1Pediatrics, Neurology and 2Pediatrics and Neurology, Pediatrics, Radiology, and 3Anesthesiology, Louisiana State University Health Sciences Center‑Shreveport, Shreveport, Louisiana, United States Address for correspondence: Dr. Rosario Maria S. Riel‑Romero, Department of Neurology and Pediatrics, School of Medicine, Louisiana State University Health Sciences Center, 1501 Kings Highway Boulevard, PO Box 3932, Shreveport, Louisiana ‑ 71130 3932, United States. E‑mail: [email protected]
References 1. Lai CS, Fisher SE, Hurst JA, Vargha‑Khadem F, Monaco AP. A forkhead‑domain gene is mutated in a severe speech and language disorder. Nature 2001;413:519‑23. 2. Zilina O, Reimand T, Zjablovskaja P, Männik K, Männamaa M, Traat A, et al. Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families. Am J Med Genet A 2012;158A:254‑6. 3. Rice GM, Raca G, Jakielski KJ, Laffin JJ, Iyama‑Kurtycz CM, Hartley SL, et al. Phenotype of FOXP2 haploinsufficiency in a mother and son. Am J Med Genet Part A 2012;158A:174‑81. 4. Zeesman S, Nowaczyk MJ, Teshima I, Roberts W, Cardy JO, Brian J, et al. Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. Am J Med Genet A 2006;140:509‑14. Journal of Neurosciences in Rural Practice | 2014 | Vol 5 | Supplement 1
5.
Palka C, Alfonsi M, Mohn A, Cerbo R, Guanciali Franchi P, Fantasia D, et al. Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. Pediatrics 2012;129:e183‑8. 6. Sarda P, Turleau C, Cabanis MO, Jalaguier J, de Grouchy J, Bonnet H. Interstitial deletion in the long arm of chromosome 7. Ann Genet 1988;31:258‑61. 7. Feuk L, Kalervo A, Lipsanen‑Nyman M, Skaug J, Nakabayashi K, Finucane B, et al. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet 2006;79:965‑72. 8. Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, et al. Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review. Am J Med Genet A 2007;143A:791‑8. 9. Gonzalez‑Toledo E, Gonzalez‑Toledo ME, Junck A, Sejenovich A. The Butterfly Pattern in Patients with Severe Psychomotor Impairment. Presented at European Congress of Radiology 2010. Available from: http://www.dx.doi.org/10.1594/ecr2010/C‑2798. [Last accessed on 2014 May 02]. Access this article online Quick Response Code:
Website: www.ruralneuropractice.com
DOI: 10.4103/0976-3147.145236
Third ventricular cavernoma: Report of two cases Sir/Madam, Cerebral parenchyma is the most common site for a cavernoma in the nervous system. Intraventricular cavernomas are rare and constitute 2.5-10.8% of cerebral cavernomas.[1] Third ventricular cavernomas are even rare, only 25 cases have been reported in the literature.[2] We report two more cases of third ventricular cavernomas. The first patient was a 54-year-old man, who presented with acute headache and vomiting. He was unconscious on arrival in casualty. CT scan showed third ventricular hemorrhage [Figure 1a]. He underwent external ventricular drainage, followed by ventriculo-peritoneal (VP) shunt later. An MRI done at 10 days after ictus showed a mixed density lesion with hemorrhagic component occupying the third ventricle with broad base on the floor [Figure 1b]. He underwent tranacallosalinterhemispheric approach and total excision of the lesion. The tumor was arising from the floor of the third ventricle. Histopathology was cavernoma. After surgery S99
Letters to Editor
a
b
Figure 1: (a) CT scan showing hemorrhage in third ventricle. (b) MRI showing a heterogeneous lesion in the third ventricle with bleed
the patient developed diabetes insipidus, which was managed with desmopressin. The second patient was a 6-year-old girl who presented with headache and vomiting for 2 months. CT scan showed a calcified in third ventricle with hydrocephalus [Figure 2a]. MRI showed a heterogeneous lesion occupying the entire third ventricle [Figure 2b]. There was no evidence of recent hemorrhage. She underwent VP shunt followed by subfrontal approach, and only partial excision of the lesion as the lesion was densely adherent to the floor of the third ventricle. Histopathology was cavernoma. After surgery she developed transient hyponatremia, which was managed medically. Third ventricular cavernomas can present with signs and symptoms of any third ventricular tumors, however they usually present with symptoms of hydrocephalus. [2] Presentation as intraventriuclar hemorrhage is uncommon, and only three cases have been reported.[2] Our first patient presented with hemorrhage, and second with hydrocephalus. They can arise from the suprachiasmatic region, foramen of Monroe, lateral wall or floor of third ventricle.[3] Both of our patients had cavernomas arising from floor of third ventricle. The imaging appearance is that of typical cavernomas. The close differential diagnosis in the absence of hemorrhage is third ventricular craniopharyngioma. The natural history of intraventricular cavernoma is not known. There is a risk of hemorrhage and acute hydrocephalus if the lesion is not excised completely. However, there is risk of hypothalamic damage in case of complete resection of lesion arising from floor of third ventricle, as it happened in our first case. It may be worthwhile doing only a VP shunt for hydrocephalus if the lesion is arising from the floor of the third ventricle.[4] A. R. Prabhuraj, Dhaval Shukla Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India S100
a
b
Figure 2: (a) CT scan showing calcified tumor in third ventricle. (b) MRI showing a heterogeneous lesion in the third ventricle Address for correspondence: Dr. Dhaval Shukla, Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bangalore - 560 029, Karnataka, India. E-mail: [email protected]
References 1. Kivelev J, Niemelä M, Kivisaari R, Hernesniemi J. Intraventricular cerebral cavernomas: A series of 12 patients and review of the literature. J Neurosurg 2010;112:140-9. 2. Patibandla MR, Thotakura AK, Panigrahi MK. Third ventricular cavernous malformation: An unusual lesion. Br J Neurosurg 2014;28:110-2. 3. Reyns N, Assaker R, Louis E, Lejeune JP. Intraventricular cavernomas: Three cases and review of the literature. Neurosurgery 1999;44:648-55. 4. Lee BJ, Choi CY, Lee CH. Intraventricular cavernous hemangiomas located at the foramen of monro. J Korean Neurosurg Soc 2012;52:144-7. Access this article online Quick Response Code:
Website: www.ruralneuropractice.com
DOI: 10.4103/0976-3147.145238
Isolated nuclear III nerve paresis secondary to neurocysticercosis showing spontaneous clinical improvement Sir, We wish to present a case of isolated nuclear IIIrd nerve paresis secondary to neurocysticercosis (NCC) showing spontaneous clinical improvement. Isolated third cranial nerve palsy is rare in NCC. A 14‑year‑old Journal of Neurosciences in Rural Practice | 2014 | Vol 5 | Supplement 1
Copyright of Journal of Neurosciences in Rural Practice is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
these patients were all reported from Argentina and they were aged 8 months, 17 months, 2 years, 3 years, 6 years, 6 years, 9 years and 22 years. The male:female (M:F) ratio was 6:2. In all cases, the lateral ventricles appeared butterfly‑shaped on coronal views at the level of the atria, very similar to the present case. The features consistently observed were non‑myelination in the juxtaventricular white matter, decreased volume of the posterior third of the corpus callosum, squaring of the posterior cap of the lateral ventricles and irregular contour of the ventricular walls. Additionally, the Sylvian fissures were deep and almost extended to the lateral ventricles. All these eight children had severe psychomotor retardation. However, unfortunately genetic studies could not be done in these patients due to financial constraints. The specific genetic associations underlying this neuroimaging pattern may be further elucidated by future case reports. In conclusion, we report an unusual neuroimaging pattern in a patient with a 19.1 Mb deletion in chromosome 7 spanning 7q22.1‑q31.31 who has severe developmental delay. The exact prevalence and significance of this observed genetic and neuroimaging association is still unclear but can be further clarified with future similar observation and reports. Suji Velayuthan, Amber Dawson1, Rosario Maria S. Riel‑Romero2, Eduardo Gonzalez‑Toledo3 Departments of 1Pediatrics, Neurology and 2Pediatrics and Neurology, Pediatrics, Radiology, and 3Anesthesiology, Louisiana State University Health Sciences Center‑Shreveport, Shreveport, Louisiana, United States Address for correspondence: Dr. Rosario Maria S. Riel‑Romero, Department of Neurology and Pediatrics, School of Medicine, Louisiana State University Health Sciences Center, 1501 Kings Highway Boulevard, PO Box 3932, Shreveport, Louisiana ‑ 71130 3932, United States. E‑mail: [email protected]
References 1. Lai CS, Fisher SE, Hurst JA, Vargha‑Khadem F, Monaco AP. A forkhead‑domain gene is mutated in a severe speech and language disorder. Nature 2001;413:519‑23. 2. Zilina O, Reimand T, Zjablovskaja P, Männik K, Männamaa M, Traat A, et al. Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families. Am J Med Genet A 2012;158A:254‑6. 3. Rice GM, Raca G, Jakielski KJ, Laffin JJ, Iyama‑Kurtycz CM, Hartley SL, et al. Phenotype of FOXP2 haploinsufficiency in a mother and son. Am J Med Genet Part A 2012;158A:174‑81. 4. Zeesman S, Nowaczyk MJ, Teshima I, Roberts W, Cardy JO, Brian J, et al. Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. Am J Med Genet A 2006;140:509‑14. Journal of Neurosciences in Rural Practice | 2014 | Vol 5 | Supplement 1
5.
Palka C, Alfonsi M, Mohn A, Cerbo R, Guanciali Franchi P, Fantasia D, et al. Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. Pediatrics 2012;129:e183‑8. 6. Sarda P, Turleau C, Cabanis MO, Jalaguier J, de Grouchy J, Bonnet H. Interstitial deletion in the long arm of chromosome 7. Ann Genet 1988;31:258‑61. 7. Feuk L, Kalervo A, Lipsanen‑Nyman M, Skaug J, Nakabayashi K, Finucane B, et al. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet 2006;79:965‑72. 8. Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, et al. Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review. Am J Med Genet A 2007;143A:791‑8. 9. Gonzalez‑Toledo E, Gonzalez‑Toledo ME, Junck A, Sejenovich A. The Butterfly Pattern in Patients with Severe Psychomotor Impairment. Presented at European Congress of Radiology 2010. Available from: http://www.dx.doi.org/10.1594/ecr2010/C‑2798. [Last accessed on 2014 May 02]. Access this article online Quick Response Code:
Website: www.ruralneuropractice.com
DOI: 10.4103/0976-3147.145236
Third ventricular cavernoma: Report of two cases Sir/Madam, Cerebral parenchyma is the most common site for a cavernoma in the nervous system. Intraventricular cavernomas are rare and constitute 2.5-10.8% of cerebral cavernomas.[1] Third ventricular cavernomas are even rare, only 25 cases have been reported in the literature.[2] We report two more cases of third ventricular cavernomas. The first patient was a 54-year-old man, who presented with acute headache and vomiting. He was unconscious on arrival in casualty. CT scan showed third ventricular hemorrhage [Figure 1a]. He underwent external ventricular drainage, followed by ventriculo-peritoneal (VP) shunt later. An MRI done at 10 days after ictus showed a mixed density lesion with hemorrhagic component occupying the third ventricle with broad base on the floor [Figure 1b]. He underwent tranacallosalinterhemispheric approach and total excision of the lesion. The tumor was arising from the floor of the third ventricle. Histopathology was cavernoma. After surgery S99
Letters to Editor
a
b
Figure 1: (a) CT scan showing hemorrhage in third ventricle. (b) MRI showing a heterogeneous lesion in the third ventricle with bleed
the patient developed diabetes insipidus, which was managed with desmopressin. The second patient was a 6-year-old girl who presented with headache and vomiting for 2 months. CT scan showed a calcified in third ventricle with hydrocephalus [Figure 2a]. MRI showed a heterogeneous lesion occupying the entire third ventricle [Figure 2b]. There was no evidence of recent hemorrhage. She underwent VP shunt followed by subfrontal approach, and only partial excision of the lesion as the lesion was densely adherent to the floor of the third ventricle. Histopathology was cavernoma. After surgery she developed transient hyponatremia, which was managed medically. Third ventricular cavernomas can present with signs and symptoms of any third ventricular tumors, however they usually present with symptoms of hydrocephalus. [2] Presentation as intraventriuclar hemorrhage is uncommon, and only three cases have been reported.[2] Our first patient presented with hemorrhage, and second with hydrocephalus. They can arise from the suprachiasmatic region, foramen of Monroe, lateral wall or floor of third ventricle.[3] Both of our patients had cavernomas arising from floor of third ventricle. The imaging appearance is that of typical cavernomas. The close differential diagnosis in the absence of hemorrhage is third ventricular craniopharyngioma. The natural history of intraventricular cavernoma is not known. There is a risk of hemorrhage and acute hydrocephalus if the lesion is not excised completely. However, there is risk of hypothalamic damage in case of complete resection of lesion arising from floor of third ventricle, as it happened in our first case. It may be worthwhile doing only a VP shunt for hydrocephalus if the lesion is arising from the floor of the third ventricle.[4] A. R. Prabhuraj, Dhaval Shukla Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India S100
a
b
Figure 2: (a) CT scan showing calcified tumor in third ventricle. (b) MRI showing a heterogeneous lesion in the third ventricle Address for correspondence: Dr. Dhaval Shukla, Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bangalore - 560 029, Karnataka, India. E-mail: [email protected]
References 1. Kivelev J, Niemelä M, Kivisaari R, Hernesniemi J. Intraventricular cerebral cavernomas: A series of 12 patients and review of the literature. J Neurosurg 2010;112:140-9. 2. Patibandla MR, Thotakura AK, Panigrahi MK. Third ventricular cavernous malformation: An unusual lesion. Br J Neurosurg 2014;28:110-2. 3. Reyns N, Assaker R, Louis E, Lejeune JP. Intraventricular cavernomas: Three cases and review of the literature. Neurosurgery 1999;44:648-55. 4. Lee BJ, Choi CY, Lee CH. Intraventricular cavernous hemangiomas located at the foramen of monro. J Korean Neurosurg Soc 2012;52:144-7. Access this article online Quick Response Code:
Website: www.ruralneuropractice.com
DOI: 10.4103/0976-3147.145238
Isolated nuclear III nerve paresis secondary to neurocysticercosis showing spontaneous clinical improvement Sir, We wish to present a case of isolated nuclear IIIrd nerve paresis secondary to neurocysticercosis (NCC) showing spontaneous clinical improvement. Isolated third cranial nerve palsy is rare in NCC. A 14‑year‑old Journal of Neurosciences in Rural Practice | 2014 | Vol 5 | Supplement 1
Copyright of Journal of Neurosciences in Rural Practice is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
