Neurofibromatosis

Station 5 PACES spot diagnosis in skin station ! Remember the criteria of diagnosis, so do not forget to check for Rinne/Weber if there is a tunning fork nearby and also ask for permission to ask about family history.

Table 2 : Criteria for Neurofibromatosis

Type 1 (Von Recklinghausen’s Disease)

Type 2

· Six or more café-au-lait spots, the greatest diameter of which is more than 5 mm in prepubertal patients and more than 15 mm in postpubertal patients · Two or more neurofibromas or one plexiform neurofibroma. Plexiform neurofibroma is considered by some to be a defining lesion of neurofibromatosis type 1 · Frecking in the axilla or inguinal region (Crowe’s sign) · Optic glioma · Two or more Lisch nodules(iris hamartoma) · A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthroses · A parent, sibling or child with neurofibromatosis according to the above criteria

· Bilateral eight cranial nerve palsy confirmed by CT or MRI · A parent, sibling or child with neurofibromatosis type 2 and either unilateral eight nerve mass or any two of the following : neurofibroma, meningioma, glioma, schanoma or juvenile posterior subcapsular lenticular opacity

Aortic Dissection

An interesting case for medical students which I experienced today. I was running the medical clinic when one of the HOs informed me that there is a case needed to be seen in the Echo room.
It was a 64 year old Malay lady who is a known case of hypertension for about 30 years, presented with shortness of breath for 2 days. Clinically she had raised JVP, bibasal crepitations in the lungs and was tachypnoeic. BP 138/80(on antihypertensives) - almost the same the other side. no radio radial or radio femoral pulse.
Basically she had symptoms of congestive cardiac failure.
ECG - sinus tachycardia
CXR - upper lobe divergence, cardiomegaly and widening of the mediastinum
Echo revealed a flap from the ascending aorta to the arch and descending aorta suggestive of Type A aortic dissection EF 40%
She was immediately sent for CT angiogram of thorax and referred to the cardiothoracic.