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Craniovertebral malformation complex in a child with Weismann-Netter-Stuhl syndrome
Ali Al Kaissi1, Farid Ben Chehida, Hassan Gharbi
1Ludwig-Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Vienna, Austria. ali.alkaissi@osteologie.at
Insights
Leg bowing in children can be misdiagnosed as rickets. This case highlights Weismann-Netter-Stuhl syndrome with a rare craniovertebral malformation, emphasizing accurate diagnosis for proper management.
Area of Science:
- Pediatric Orthopedics
- Radiology
- Genetics
Background:
- Bowing of the legs is often misattributed to vitamin D deficiency rickets.
- This can lead to misdiagnosis and improper management in affected children.
Observation:
- A 2-year-old male presented with radiological features of Weismann-Netter-Stuhl syndrome.
- The patient also exhibited a craniovertebral malformation complex, including a hypoplastic occipitalized atlas and C2-C3 fusion.
- This specific combination has not been previously reported.
Findings:
- Weismann-Netter-Stuhl syndrome typically involves short stature, potential mental retardation, dural calcification, and anterior tibial bowing.
- The presented case underscores the importance of detailed clinical and radiological assessment beyond typical presentations.
- Congenital neck movement limitations were attributed to the fused atlas and C2-C3 vertebrae.
Implications:
- Undiagnosed craniovertebral malformations can lead to atlantoaxial involvement and serious neurological complications.
- Computed Tomography (CT) scanning is crucial for detecting these subtle abnormalities.
- Accurate diagnosis of Weismann-Netter-Stuhl syndrome and associated malformations improves patient management.
Objective:
Bowing of the legs is usually thrown into the basket of vitamin D deficiency rickets; therefore, a significant number of affected children can be misdiagnosed and improperly managed. This case illustrates how the careful clinical and radiological assessment of such a case can lead to the adequate understanding of its etiology.
Description:
We report a sporadic case of a 2-year-old male child who presented with radiological features that were compatible with Weismann-Netter-Stuhl syndrome. In addition, we observed craniovertebral malformation complex. He was of normal intelligence. To our knowledge, the combination of Weismann-Netter-Stuhl syndrome and presence of a hypoplastic occipitalized atlas and further C2-C3 fusion has not been reported before. The diagnosis of Weismann-Netter-Stuhl is discussed. Classically, Weismann-Netter-Stuhl syndrome is characterized by short stature, mental retardation (in some individuals), dural calcification, and anterior bowing of the tibiae. However, we believe that careful clinical and radiological examinations can reveal more striking data which might positively reflect on the whole process of management.
Comments:
We postulate that the congenital limitations in neck movements in our patient developed because of the marked fusion of the hypoplastic and occipitalized atlas and simultaneous C2-C3 fusion. Therefore, if this form of malformation is disregarded, there may be involvement of the atlantoaxial structure, and this can possibly lead to serious neurological and even life-threatening complications. The use of CT scanning for the detection of such abnormalities can be remarkably important.
