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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.


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(Patient 2) Lateral feet radiograph showed the juxtacalcaneal ossific centres.
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fig6: (Patient 2) Lateral feet radiograph showed the juxtacalcaneal ossific centres.

Mentions: A two-year-old girl was referred to our department because of bilateral elbow dislocation and bilateral club foot. She was born with low birth weight and she was hypotonic. Parents are not related and family history was noncontributory. At birth, she manifested severe psychomotor delay, hypotonia, and seizures, and MRI scan showed hypoplasia of the corpus callosum. Ophthalmological examination showed normal vision. Investigations showed normal serum levels of luteinizing hormone, follicle stimulating hormone, prolactin, estradiol, and progesterone hormone. Karyotyping of the patient and their parents were normal. Metabolic parameters to assess blood glucose, uric acid, serum calcium, phosphorus, and parathyroid hormone levels were normal. She exhibited brachycephaly, rounded facies, hypertelorism, and micrognathia. Anteroposterior (AP) elbows radiograph showed bilateral elbow dislocation, hypoplasia of the ulnae, and brachydactyly (Figure 5). AP pelvis radiograph showed coxa valga. Lateral foot radiograph showed (talipes equinovarus) associated with a juxtacalcaneal accessory bone (bilaterally) (Figure 6).


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 2) Lateral feet radiograph showed the juxtacalcaneal ossific centres.
© Copyright Policy
Related In: Results  -  Collection

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

fig6: (Patient 2) Lateral feet radiograph showed the juxtacalcaneal ossific centres.
Mentions: A two-year-old girl was referred to our department because of bilateral elbow dislocation and bilateral club foot. She was born with low birth weight and she was hypotonic. Parents are not related and family history was noncontributory. At birth, she manifested severe psychomotor delay, hypotonia, and seizures, and MRI scan showed hypoplasia of the corpus callosum. Ophthalmological examination showed normal vision. Investigations showed normal serum levels of luteinizing hormone, follicle stimulating hormone, prolactin, estradiol, and progesterone hormone. Karyotyping of the patient and their parents were normal. Metabolic parameters to assess blood glucose, uric acid, serum calcium, phosphorus, and parathyroid hormone levels were normal. She exhibited brachycephaly, rounded facies, hypertelorism, and micrognathia. Anteroposterior (AP) elbows radiograph showed bilateral elbow dislocation, hypoplasia of the ulnae, and brachydactyly (Figure 5). AP pelvis radiograph showed coxa valga. Lateral foot radiograph showed (talipes equinovarus) associated with a juxtacalcaneal accessory bone (bilaterally) (Figure 6).

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