Approach to a child with weakness Dr. Pushpa Raj Sharma Professor of Child Health Institute of Medicine Weakness/paresis/paralysis Upper Motor Neuron. Lower Motor Neuron Myopathic Pattern of weakness Sign UMN LMN Atrophy - +++ + Fasciculations - +++ - Tone +++ Myopathic - +/- Distribution Regional Segmental Proximal Tendon reflexes +++ -/-- +/- Babinski’s sign + - - Important fact: When there is a discrepancy between the history and physical findings, it is usually because the patient complains of weakness, whereas symptoms are actually due to other causes. Child Abuse may be the cause. Motor Neuron Disease Asymmetric Upper and lower motor neurones Amyotrophic Lateral Sclerosis (ALS) Sporadic ALS Hereditary ALS Superoxide Dismutase; Chromosome 21; Dominant Other ALS: Recessive & Dominant Multi-system disorders ALS with Ophthalmoplegia & Extrapyramidal Disorders Polyglucosan body disease Motor neuronopathy with cataracts and skeletal abnormalities Multiple system atrophy Motor Neuron Disease Symmetrical and proximal SMN: Chromosome 5q; Recessive Androgen Receptor (Bulbo-spinal Muscular Atrophy): X-linked; Recessive Hexosaminidase A (Tay-Sachs): Chromosome 15; Recessive Hand weakness Bulbar involvement Motor Neuron Disease Lower motor neurones only • Distal Lower Motor Neuron (LMN) Syndrome IgM vs GM1 ganglioside IgM vs GalNAc-GD1a ganglioside Also see: Multifocal motor neuropathy • Proximal Lower Motor Neuron Syndromes Brachial amyotrophic diplegia ? Associated with IgM vs asialo-GM1 Rare: Upper > Lower limbs with anti-Hu antibodies Motor Neuron Disease Lower Motor Neuron Syndrome without antibodies (PMA) ALS variants • Hereditary • Sporadic Focal motor neuron disease • Monomelic Amyotrophy • Paraspinous muscle amyotrophy • Cervical amyotrophy Motor Neuron Disease Paraneoplastic motor neuro(no)pathy • Mild weakness: With lymphoma • Severe weakness: With breast cancer Hopkins' syndrome: Acute post-asthmatic amyotrophy Polio & Post-polio syndrome SMN2 (SMNC) deletions Neurofibromatosis, Type 25 Motor Neuron Disease Symmetric & Proximal: Hereditary Spinal Muscular Atrophy SMN: Chromosome 5q; Recessive Androgen Receptor (Bulbo-spinal Muscular Atrophy): X-linked; Recessive Hexosaminidase A (Tay-Sachs): Chromosome 15; Recessive Motor Neuron Disease Rapid onset Acute Axonal Motor Neuropathy (with Campylobacter jejuni or serum IgG vs GM1) Poliomyelitis Porphyria 4 types cause neurologic attacks • • • • Acute intermittent Variegate Porphyria Coproporphyria δ-amino-levulinic acid dehydratase deficiency Urine: All types produce increased δ-amino-levulinic acid during attacks Motor Neuron Disease Painful Acquired Others Motor Neuron Disease Acquired Toxic: Lead; Dapsone; Botulism; Tick Paralysis Infections Polio West Nile Central European encephalitis Creutzfeld-Jacob • Amyotrophy • Polyneuropathy (± Demyelinating) Weakness/ paresis/ paralysis indicates the lesions in the upper motor nurone or lower motor neurone or myoneural junction or muscles. Preservation of sensation/ Increased or absent or diminished jerks/ atrophy or hypertrophy indicates the site of lesions. The major clinical diagnosis associated with AFP (n= 517) * Guillain-Barre syndrome (30.2%), Central nervous system infection (16.2%), Transverse myelitis (10.6%) Non-polio enterovirus infection (6.2%), Hypokalaemic paralysis (5.2%). * Hussain IH, Ali S, Sinniah M, Kurup D, Khoo TB, Thomas TG, Apandi M, Taha AM J Paediatr Child Health. 2004 Mar;40(3):12730 Age distribution of Guillain-Barré syndrome. AIDP=acute inflammatory demyelinating polyradiculoneuropathy; FS=Fisher syndrome Lyu, R.-K. et al. J Neurol Neurosurg Psychiatry 1997;63:494-500 Seasonal distribution of Guillain-Barré syndrome Lyu, R.-K. et al. J Neurol Neurosurg Psychiatry 1997;63:494-500 Recurrent Guillain Barre' Syndrome Of the 220 patients of acute idiopathic demyelinating polyneuritis (AIDP/GBS) seen over a seven year period, 15 patients (M:F:11:4) had a relapsing course (6.8%). They had 36 episodes at a variable interval of 3 months to 25 yrs. Taly AB, Gupta SK, Anisya V, Shankar SK, Rao S, Das KB, Nagaraja D, Swamy HS. J Assoc Physicians India. 1995 Apr;43(4):249-52. Follow-up of AGBS At a follow-up of 1 year or more, 20 patients recovered and 3 had residua. Hung PL, Chang WN, Huang LT, Huang SC, Chang YC, Chang CJ, Chang CS, Wang KW, Cheng BC, Chang HW, Lu CH. Pediatr Neurol. 2004 Feb;30(2):86-91. permanent neurological defects in children under 15 years of age was 1.4/10 million annually Rantala H, Uhari M, Niemela M. Arch Dis Child. 1991 Jun;66(6):706-8; discussion 708-9. Subacute Inflammatory Demyelinating Polyneuropathy. progressive motor and/or sensory dysfunction consistent with neuropathy in more than one limb with time to nadir between 4 and 8 weeks, electrophysiologic evidence of demyelination in at least two nerves, no other etiology of neuropathy, and no relapse on adequate follow-up. Complete recovery was achieved in 69% of cases and partial recovery in others. Oh SJ, Kurokawa K, de Almeida DF, Ryan HF Jr, Claussen GC. Neurology. 2003 Dec 9;61(11):1507-12. Chronic Inflammatory Demyelinating Polyradiculoneuropathy A low frequency of antecedent events. Weakness accompanied by sensory loss and diminished tendon reflexes Pain and cranial neuropathies are uncommon Progressive weakness for two months. Sladky JT; Ashwal S: Peripheral neuropathies in childre. Pediatric Neurology Principles and Practice. Ed. Swaiman KS; Ashwal S. 3rd ed.1999. Publisher: Mosby Causes Inflammatory Polyradiculoneuropathy GB Syndrome 58% Chronic inflammatory demyelinating polyneuropathy 31% Associated with collagen vascular disease 7% Other immune/infectous disorders 4% HOPKINS' SYNDROME: Acute postasthmatic amyotrophy Onset After acute asthmatic attack: Latency 1 to 18 days Mild pain: Limb, neck or meningismus Rapid onset weakness HOPKINS' SYNDROME: Acute postasthmatic amyotrophy Weakness Single limb; Asymmetric; May be Proximal > Distal Severity: Mild to severe Arm or leg Sensory: Normal HOPKINS' SYNDROME: Acute postasthmatic amyotrophy CSF Pleocytosis Protein: ± Increased MRI: May show signal (T2) in spinal cord Prognosis: Permanent paralysis Flaccid or hyper tonicity