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Thomas H Milhorat

Publications and source records attributed to Thomas H Milhorat.

5 recordsLinked to original sources
PubMed2006

Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15.

Chiari type I malformation (CMI; OMIM 118420) is narrowly defined when the tonsils of the cerebellum extend below the foramen magnum, leading to a variety of neurological symptoms. It is widely thought that a small posterior fossa (PF) volume, relative to the total cranial volume leads to a cramped cerebellum and herniation of the tonsils into the top of the spinal column. In a collection of magnetic resonance imagings (MRIs) from affected individuals and their family members, we measured correlations between ten cranial morphologies and estimated their heritability in these families. Correlations between bones delineating the PF and significant heritability of PF volume (0.955, P = 0.003) support the cramped PF theory and a genetic basis for this condition. In a collection of 23 families with 71 affected individuals, we performed a genome wide linkage screen of over 10,000 SNPs across the genome to identify regions of linkage to CMI. Two-point LOD scores on chromosome 15 reached 3.3 and multipoint scores in this region identified a 13 cM region with LOD scores over 1 (15q21.1-22.3). This region contains a biologically plausible gene for CMI, fibrillin-1, which is a major gene in Marfan syndrome and has been linked to Shprintzen-Goldberg syndrome, of which CMI is a distinguishing characteristic. Multipoint LOD scores on chromosome 9 maximized at 3.05, identifying a 40 cM region with LOD scores over 1 (9q21.33-33.1) and a tighter region with multipoint LOD scores over 2 that was only 8.5 cM. This linkage evidence supports a genetic role in Chiari malformation and justifies further exploration with fine mapping and investigation of candidate genes in these regions.

Arnold-Chiari Malformation↗
PubMed2003

Tailored operative technique for Chiari type I malformation using intraoperative color Doppler ultrasonography.

OBJECTIVE: We describe an operative technique for Chiari Type I malformation that uses color Doppler ultrasonography as a guide for performing patient-specific posterior fossa decompressions. The technique has been used since 1999 in more than 300 operations. METHODS: On the basis of real-time anatomic and physiological measurements, the following goals of surgery were monitored: 1) adequate decompression of the cervicomedullary junction; 2) creation of a retrocerebellar space of 8 to 10 cm(3) volume; and 3) establishment of optimal cerebrospinal fluid flow between the cranial and spinal compartments. RESULTS: The size of the craniectomy was tailored to conform to the area of cerebellar impaction as demarcated by compressed subarachnoid spaces. A laminectomy was not performed unless the cerebellar tonsils were herniated below C1. Before opening the dura, color Doppler ultrasonography imaging was invaluable in planning operative strategies. A simple duraplasty without additional steps was found to be appropriate treatment in occasional patients with minimal tonsillar herniation (5-8 mm). In all other cases, it was necessary to perform an internal decompression that included lysis of the arachnoid and shrinkage of the cerebellar tonsils to achieve the goals of surgery. Optimal cerebrospinal fluid flow through the foramen magnum in anesthetized, prone patients was found to have the following characteristics: a peak velocity of 3 to 5 cm/s, bidirectional movement, and a waveform exhibiting vascular and respiratory variations. The attainment of surgical goals was confirmed in most patients by postoperative neuroimaging. CONCLUSION: Color Doppler ultrasonography imaging is an important technological advance that permits the neurosurgeon to tailor the steps of Chiari surgery according to patient-specific variables. The success of this technique depends on the mastery of a new and sophisticated monitoring modality.

Adult↗
PubMed2003

Acute syringomyelia: case report.

OBJECTIVE AND IMPORTANCE: Syringomyelia is generally regarded as a chronic, slowly progressive disorder. We describe a case of acute dilation of the central canal of the spinal cord that presented with rapidly progressive segmental signs. CLINICAL PRESENTATION: A 29-year-old female patient who had previously undergone surgical treatment for a Chiari I malformation, syringomyelia, and hydrocephalus presented with an 8-day history of headaches, progressive paraparesis, and urinary retention. Magnetic resonance imaging scans demonstrated panventricular hydrocephalus in association with a holocord syrinx that extended to the obex. Magnetic resonance imaging scans that had been coincidentally obtained just 3 days before the onset of symptoms had revealed no evidence of hydrocephalus or syringomyelia. INTERVENTION: The patient underwent emergency revision of a failed ventriculoperitoneal shunt. Postoperatively, there was prompt resolution of the syringomyelia, hydrocephalus, and associated neurological deficits. CONCLUSION: Among patients with communicating syringomyelia, the central canal of the spinal cord participates as a "fifth ventricle" and can undergo rapid dilation in association with acute hydrocephalus. Appropriate treatment in such cases involves placement of a ventriculoperitoneal shunt.

Acute Disease↗
PubMed2002

The tentorial notch: anatomical variation, morphometric analysis, and classification in 100 human autopsy cases.

OBJECT: Variations in the structure of the tentorial notch may influence the degree of brainstem distortion in transtentorial herniation, concussion, and acceleration-deceleration injuries. The authors examined the anatomical relationships of the mesencephalon, cerebellum, and oculomotor nerves to the dimensions of the tentorial aperture. On the basis of numerical data collected from this study, the authors have developed the first classification system of the tentorial notch and present new neuroanatomical observations pertaining to the subarachnoid third cranial nerve and the brainstem. METHODS: The mesencephalon was sectioned at the level of the tentorial edge in 100 human autopsy cases (specimens from 23 female and 77 male cadavers with a mean age at time of death of 42.5 years [range 18-80 years]). The following measurements were determined: 1) anterior notch width, the width of the tentorial notch in the axial plane through the posterior aspect of the dorsum sellae; 2) maximum notch width (MNW), the maximum width of the notch in the axial plane; 3) notch length (NL), the length of the tentorial notch from the superoposterior edge of the dorsum sellae to the apex of the notch; 4) posterior tentorial length, the shortest distance between the apex of the notch and the most anterior part of the confluence of the sinuses; 5) interpedunculoclival (IC) distance, the distance from the interpeduncular fossa to the superoposterior edge of the dorsum sellae; 6) apicotectal (AT) distance, the distance from the tectum in the median plane to a perpendicular line dropped from the apex of the tentorial notch to the cerebellum; 7) cisternal third nerve distance, the distance covered by the cisternal portion of the third cranial nerve; and 8) inter-third nerve angle, the angle between the two third cranial nerves. The quartile distribution technique was applied to all measurements. Mean values are presented as the means +/- standard deviations. Quartile groups defined by NL (mean 57.7 +/- 5.6 mm) were labeled long, short, and midrange, and those defined by MNW (mean 29.6 +/- 3 mm) were labeled wide, narrow, and midrange. Combining these groups into a matrix formation resulted in the classification of the tentorial notch into the following eight types: 1) narrow (15% of specimens); 2) wide (12% of specimens); 3) short (8% of specimens); 4) long (15% of specimens); 5) typical (24% of specimens); 6) large (9% of specimens); 7) small (10% of specimens); and 8) mixed (7% of specimens). The IC distance (mean 20.4 +/- 3.2 mm) was used to characterize brainstem position as prefixed (28% of specimens), postfixed (36% of specimens), or midposition (36% of specimens). The IC distance was correlated with the left and right cisternal third nerve distances (means 26.7 +/- 2.9 mm and 26.1 +/- 3.2 mm, respectively) and the inter-third nerve angle (mean 57.3 +/- 7.3 degrees). The exposed cerebellar parenchyma within the notch, the relationship between the brainstem and tentorial edge, and the brainstem position varied considerably among individuals. The cisternal third nerve distance, its trajectory, and its anatomical relation to the skull base also varied widely. Two anatomically distinct segments of the subarachnoid third cranial nerves were characterized with respect to the skull base as suspended and supported segments. CONCLUSIONS: The authors present a new classification system for the tentorial aperture to help explain variations in herniation syndromes in patients with otherwise similar intracranial pathological conditions, and responses to concussive and acceleration-deceleration injuries. The authors present observations not previously described regarding the position of the brainstem within the tentorial aperture and the cisternal portion of the third cranial nerves. A significant statistical correlation was discovered among specific morphometric parameters of the tentorial notch, brainstem, and oculomotor nerves. These findings may have neurosurgical implications in clinical situations that cause brainstem distortion. Additionally, this analysis provides baseline data for interpreting magnetic resonance and computerized tomography images of the tentorial notch and its regional anatomy.

Adolescent↗