This is a case presentation of a 12-year-old girl who presented with bilateral ptosis, facial weakness, difficulty swallowing, and some hearing impairment that developed over 7 years. Examinations and tests showed signs of bulbar motor neuron involvement but normal muscle enzymes and nerve conduction studies. A review of literature on spinal muscular atrophy types suggests this patient has Type I bulbar SMA, characterized by sensorineural deafness and slow progression of bulbar palsy and weakness. Genetic testing may help confirm the diagnosis. Supportive management focuses on physical therapy and assisted ventilation if needed.

1. Case Presentation DR. HASSAB EL-RASOUL SIDDIG UNIT Omdurman Military Hospital Presented By: Dr. Kamal Abdel Azeem

2. Name : صفاء حمد عبدالرحمن Age : 12 years Sex : Female Residence : شندي Tribe : شايقية D.O.A : 28.8.03 C/O: Difficulty hearing Facial weakness Difficulty swallowing Difficulty speaking 7yrs

3. HPI: The pt. was an outcome of NVD at home, cried after resuscitation & took the breast. She passed through a normal milestones & fully vaccinated. At the age of 5yrs, she developed difficulty hearing and a few days later facial weakness. She was noticed to have inability to raise her brows or open her eyes. The condition associated with difficulty swallowing, especially fluids.

4. There was also difficulty speaking, her speech was low tone. No fluctuation in weakness was noticed. The whole process was not preceded by trauma, fever, sore throat, fatigability, nasal or ear discharge. No convulsion, abnormal movement, headache or syncopal attacks. No disturbance of smell. No UL, LL or truncal weakness. No sphincter disturbance.

13. CVS RS NAD GIT MSS

14. Summary This is a 12 years old girl with bilateral ptosis,and facial and bulbar weakness and some hearing impairment of rapidly progressive course of 7 years duration. No family history of similar condition.

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20. Investigations: (1) CBC Hb : 12.1G/dl TWBCs 3.4 x 10 3 /cm HCT : 35% Neutropil 57% RBCs : 4 x 10 3 /cm Lymphocytes 40% MCV : 86.6FL Cosinophil MCH : 30.2pq Basophit 3 MCHC : 34.5g/d Monocyte ESR : 32mm/1hr Plt count:386 x 10 3 /cm Comment : normal morphology

22. (5) S.CK : 42U/L NR (15-130) (6) Chest x-ray : Normal (7) EMG (8) NCS * Neostigmine test : -ve

23. Literature Review

26. Types: (A) Proximal limb involvement. I) Acute infantile SMA (Werdnig Hoffman) (AR). II) Chronic childhood SMA (Kugelberg Welander) (AR). III) Adult onset SMA (AR). IV) AD juvenile SMA. V) AD adults SMA. (B) Distal limb involvement 7 various forms which are indistinguishable from HSMN I,II (Charcot Marie Tooth). (C) Bulbo spinal form (Kennedy Syndrome) x-linked.

27. (D) Occulo pharyngeal – AD. (E) Bulbar SMA (AR). Type I : (With deafness) Vialetto-Van Laere syndrome. Type II : (Without deafness) Fazio-Londe disease. We believe our patient has bulbar SMA Type I, first reported by Vialetto in 1936 and later in 1966 by Van Laere. Onset is before age 20.

28. Characterized by sensorineural deafness. There is facial weakness with dysarthria, dysphagia (bulbar palsy). The progression is slow and course variable. Some patients reach adulthood. There may be generalized weakness with hypotonia and wasting. Reflexes in limbs are present. NCS + EMG demonstrate signs of AHC disease.

32. Areas of Research: A) Genetic studies. 2 genes have been identify on chromosome 5 q : the survival motor neuron (SMN) gene, & (NAIP). the neuronal apoptosis inhibition protein as the names imply abnormalities in those genes (deletion) lead to neuronal death. B) Prenatal prediction & diagnosis of affected foetuses in families with the disease.

33. ThankYou ...