CASE REPORTS OF PROGRESSIVE INFANTILE MUSCULAR ATROPHY (WERDNIG-HOFFMANN) IN FRATERNAL TWINS

Some of the severe manifestations of Werdnig-Hoffmann disease are the pseudobulbar and bulbar syndromes complicated by the hypotrophy of the various degrees of severity. The clinical case of the nutritional support for the child with grade II hypotrophy that complicated the course of Werdnig–Hoffmann disease in one-year-old child is presented. The purpose of this study is to assess the effect of Clinutren Junior high-calorie formula for children from 1 to 10 years of age on the growth and development of the child diagnosed with type I spinal muscular atrophy. The results were analyzed according to the degree of change in the following anthropometric data: mid-arm circumference, mid-hip circumference, the size of the skin fold in the periumbilical region, as well as laboratory data, as follows: albumin, total protein, lymphocytes.

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PROGRESSIVE SPINAL MUSCULAR ATROPHY OF THE WERDNIG HOFFMANN TYPE*†

Southern Medical Journal ◽

10.1097/00007611-192909000-00016 ◽

1929 ◽

Vol 22 (9) ◽

pp. 839-843 ◽

Cited By ~ 3

Author(s):

George M. Lyon

Keyword(s):

Spinal Muscular Atrophy ◽

Muscular Atrophy ◽

Werdnig Hoffmann

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103 Atypical Progressive Bulbar Palsy presenting with Dropped Head

CNS Spectrums ◽

10.1017/s1092852920000218 ◽

2020 ◽

Vol 25 (2) ◽

pp. 267-267

Author(s):

Alexander Carvajal-González ◽

Antonio H Iglesias

Keyword(s):

Motor Neuron ◽

Neurological Examination ◽

Muscular Atrophy ◽

Case Reports ◽

Nemaline Myopathy ◽

Carnitine Deficiency ◽

Neck Muscle ◽

Thyroid Function Tests ◽

Dropped Head Syndrome ◽

Bulbar Palsy

Abstract:Introduction:Typical amyotrophic lateral sclerosis (ALS) presents on neurological examination with specific signs of upper and lower motor neuron degeneration (Brooks et al, 1995), which can account for 85% of patients with ALS (Turner and Talbot, 2013). There are different types of clinical presentations, including progressive bulbar palsy (PBP), Limb-onset ALS, progressive muscular atrophy (PMA) and upper motor neuron (UMN) predominant ALS. PBP has mainly brainstem signs. There are a few case reports of dropped head syndrome in ALS, mainly in patients with the limb involvement variant.Methods:Case reportResults:A 56 year old right-handed male, presented to the clinic with four months of dysphagia to liquids and solids, neck pain and progressive neck weakness causing constant drop head. No dysarthria or other neurological symptoms, no dyspnea. Neurological examination: Cranial Nerve (CN) CN XII: Nasal voice, bilateral atrophy of the tongue with tremor and fasciculations. Motor: Diffuse atrophy and decreased tone of the sternocleidomastoid and trapezii bilaterally, strength: 2/5 in neck flexors and extensors. Sensory: Hypoesthesia of the tongue. The rest of his neurological examination was normal. Labs: Routine blood work, thyroid function tests, collagen vascular work-up, and protein electrophoresis were normal. Creatine Phosphokinase (CPK) and Acetylcholine Receptor Antibodies (AChR Ab) were negative. Brain and Spinal Cord MRI: Showed mild brainstem, cerebellar and cervical spinal atrophy.Conclusions:Patients with ALS initially present with symptoms localized to the limbs or bulbar muscles. A very small percentage 1-2% of ALS patients had neck muscle weakness with head drop (Jokelainen et al, 1977; Gourie-Devi et al, 2003). However, in all the previously reported cases, the patients had limb involvement at the time of presentation which was absent in this case, and the head drop occurred after the onset of symptoms (Lange et al, 1986; Katz et al; 1996). Dropped head syndrome can be seen in inflammatory myopathies, myasthenia gravis, facioscapulohumeral muscular dystrophy, spinal muscular atrophy, nemaline myopathy and carnitine deficiency (Umapathy et al, 2003) but ALS should also be considered in patients with atypical presentations.

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