Saposin B–Deficient Metachromatic Leukodystrophy Mimicking Acute Flaccid Paralysis

AbstractMetachromatic leukodystrophy (MLD) is a rare sphingolipid storage disorder caused by arylsulfatase A (ARSA) deficiency, resulting in central and peripheral demyelination. However, an uncommon form of MLD caused by saposin B deficiency is also described (around 10 mutations reported till date). MLD is a systemic disorder affecting the central and peripheral nervous system, gall bladder, and kidneys. Acute flaccid paralysis as the initial clinical presentation is previously known in ARSA-deficient MLD. Hereby, we report a child with acute flaccid paralysis with brain magnetic resonance imaging showing nonspecific periventricular leukodystrophy. He had progressive cognitive decline with gall bladder polyposis. ARSA levels were within normal limits. Leukodystrophy gene panel revealed a homozygous pathogenic deletion (Lys227del variant) in prosaposin (PSAP) gene. Hence, a final diagnosis of saposin B–deficient MLD was established. The index case highlights the importance of clinical and electrophysiological clues in the diagnosis of such atypical presentations of MLD.

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Gullain Barre Syndrome in an 18 month old child: A case report

International Journal of Growth and Development ◽

10.25081/ijgd.2017.v1i1.33 ◽

2017 ◽

Vol 1 (1) ◽

pp. 32

Author(s):

Faryal Adil

Keyword(s):

Acute Flaccid Paralysis ◽

Cranial Nerves ◽

Final Diagnosis ◽

Paediatric Population ◽

Female Child ◽

Rapid Onset ◽

Flaccid Paralysis ◽

Autonomic Nerves ◽

Upper Respiratory Tract ◽

Limb Weakness

Gullian Barre Syndrome is a post infectious poly neuropathy mainly involving motor, but sometimes also sensory and autonomic nerves. Recent immunization with influenza, oral polio and rabies are included in etiology. Pure motor axonal type has the highest incidence in paediatric population. There is flaccid ascending paralysis with areflexia. Autonomic and cranial nerve impairment are also noted. We are presenting a case of 18 months old female child, partially vaccinated, weighing 9kg, who presented with complains of generalized for two days and inability to walk for one day. Child had upper respiratory tract infection two weeks back for which she took oral antibiotics. Milestones were appropriate for age. On examination GCS was 7/15, cranial nerves intact , hypotonia with areflexia and decrease power in all four limbs. Rest of the systemic examination was unremarkable. Laboratory investigations showed leuckocytosis with normal electrolytes and renal functions. However CSF showed pleocytosis with normal glucose and WBC count. Stool culture for polio virus was sent and found to be negative. Our provisional diagnosis is acute flaccid paralysis which could be due to poliomyelitis, gullain barre syndrome and botulinism. History, examination and CSF D/R was suggestive of gullain barre syndrome, so final diagnosis was made. Child was intubated in PICU immediately after shift from emergency due to labored breathing and low GCS. Child was on ventilator support for two days. Intravenous immunoglobulin were arranged and given but unfortunately child expired on second day of admission. Gullain barre syndrome is one of the important cause of acute flaccid paralysis and it is associated with highest mortality incases with rapid onset of limb weakness and mechanical ventilation.

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