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Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography.

Al Kaissi A, Kurz H, Bock W, Pärtan G, Klaushofer K, Ganger R, Grill F - Case Rep Orthop (2014)

Bottom Line: Results.Bilateral radiohumeral synostosis associated with pyruvate dehydrogenase deficiency has been encountered in one patient.Conclusion.

View Article: PubMed Central - PubMed

Affiliation: Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Austria-Heinrich Collin Staße, 1140 Vienna, Austria ; Orthopaedic Hospital of Speising, Paediatric Department, Speisinger Staße 109, 1130 Vienna, Austria.

ABSTRACT
Purpose. Mental retardation, mild to severe epilepsy and cerebral palsy often of hemiplegic type are common accompaniments in patients with agenesis/hypoplasia of the corpus callosum. Skeletal deformities of bilateral radiohumeral synostosis, brachydactyly, bilateral elbow dislocation, talipes equinovarus, and juxtacalcaneal accessory bones have been encountered in two unrelated children with agenesis of the corpus callosum. Methods. We report on two unrelated children who presented with the full clinical criteria of agenesis of the corpus callosum. Strikingly, both presented with variable upper and lower limb deformities. The clinical features, radiographic and MRI findings in our current patients, have been compared with previously reported cases identified through a PubMed literature review. Results. Bilateral radiohumeral synostosis associated with pyruvate dehydrogenase deficiency has been encountered in one patient. The other patient manifested bilateral elbow dislocation, coxa valga, talipes equinovarus, and bilateral juxtacalcaneal accessory bones. Conclusion. The constellation of malformation complexes in our current patients have the hitherto not been reported and expanding the spectrum of skeletal deformities in connection with agenesis of the corpus callosum.

No MeSH data available.


Related in: MedlinePlus

(Patient 1) Coronal T1 SE image shows subcortical leucencephalopathy (white arrow), marked enlargement of the left (LV) more than the right ventricle (RV), and hypoplasia predominantly of the left cerebellum (asterisk).
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fig2: (Patient 1) Coronal T1 SE image shows subcortical leucencephalopathy (white arrow), marked enlargement of the left (LV) more than the right ventricle (RV), and hypoplasia predominantly of the left cerebellum (asterisk).

Mentions: Clinical examination showed growth around the 10th percentile; the head circumference was around the 50th percentile, rounded facies, frontal bossing, and upturned hypoplastic nose. MRI one day after birth showed agenesis of the corpus callosum with colpocephalic enlargement of the side ventricles (Figure 1). Coronal T1 SE image shows subcortical leucencephalopathy (white arrow) associated with marked enlargement of the left (LV) more than the right ventricle (RV), and hypoplasia predominantly of the left cerebellum (asterisk) (Figure 2). Anteroposterior upper limb radiograph shows bilateral and symmetrical humeroradial synostosis associated with ulnar ray hypoplasia (Figure 3). Anteroposterior hand radiographs showed dysplastic first and second digits, respectively (Figure 4).


Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography.

Al Kaissi A, Kurz H, Bock W, Pärtan G, Klaushofer K, Ganger R, Grill F - Case Rep Orthop (2014)

(Patient 1) Coronal T1 SE image shows subcortical leucencephalopathy (white arrow), marked enlargement of the left (LV) more than the right ventricle (RV), and hypoplasia predominantly of the left cerebellum (asterisk).
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3926397&req=5

fig2: (Patient 1) Coronal T1 SE image shows subcortical leucencephalopathy (white arrow), marked enlargement of the left (LV) more than the right ventricle (RV), and hypoplasia predominantly of the left cerebellum (asterisk).
Mentions: Clinical examination showed growth around the 10th percentile; the head circumference was around the 50th percentile, rounded facies, frontal bossing, and upturned hypoplastic nose. MRI one day after birth showed agenesis of the corpus callosum with colpocephalic enlargement of the side ventricles (Figure 1). Coronal T1 SE image shows subcortical leucencephalopathy (white arrow) associated with marked enlargement of the left (LV) more than the right ventricle (RV), and hypoplasia predominantly of the left cerebellum (asterisk) (Figure 2). Anteroposterior upper limb radiograph shows bilateral and symmetrical humeroradial synostosis associated with ulnar ray hypoplasia (Figure 3). Anteroposterior hand radiographs showed dysplastic first and second digits, respectively (Figure 4).

Bottom Line: Results.Bilateral radiohumeral synostosis associated with pyruvate dehydrogenase deficiency has been encountered in one patient.Conclusion.

View Article: PubMed Central - PubMed

Affiliation: Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Austria-Heinrich Collin Staße, 1140 Vienna, Austria ; Orthopaedic Hospital of Speising, Paediatric Department, Speisinger Staße 109, 1130 Vienna, Austria.

ABSTRACT
Purpose. Mental retardation, mild to severe epilepsy and cerebral palsy often of hemiplegic type are common accompaniments in patients with agenesis/hypoplasia of the corpus callosum. Skeletal deformities of bilateral radiohumeral synostosis, brachydactyly, bilateral elbow dislocation, talipes equinovarus, and juxtacalcaneal accessory bones have been encountered in two unrelated children with agenesis of the corpus callosum. Methods. We report on two unrelated children who presented with the full clinical criteria of agenesis of the corpus callosum. Strikingly, both presented with variable upper and lower limb deformities. The clinical features, radiographic and MRI findings in our current patients, have been compared with previously reported cases identified through a PubMed literature review. Results. Bilateral radiohumeral synostosis associated with pyruvate dehydrogenase deficiency has been encountered in one patient. The other patient manifested bilateral elbow dislocation, coxa valga, talipes equinovarus, and bilateral juxtacalcaneal accessory bones. Conclusion. The constellation of malformation complexes in our current patients have the hitherto not been reported and expanding the spectrum of skeletal deformities in connection with agenesis of the corpus callosum.

No MeSH data available.


Related in: MedlinePlus