A male neonate was born to a primigravida mother from a non consanguineous marriage by elective cesarean section at 39 wk of gestation. The pregnancy was unremarkable (except for borderline polyhydramnios) and history of reduced fetal movements reduced for one week before delivery. The neonate did not make any respiratory efforts after delivery and had a weak cry requiring intubation and mechanical ventilation at birth, however bradycardia was never noticed. He was ventilator-dependent, hypotonic, alert and responsive to tactile stimuli with absent deep tendon jerks. Extraocular and facial muscles were spared. He had a bell shaped chest and tongue fasciculation. He was noticed to have contractures of wrist and knee joint immediately after birth (Figs. 1, 2). No other dysmorphism or obvious congenital anomalies were noted.

Fig. 1 Infant on ventilator with alert expression, pithed frog posture, splinted fracture left femur, bell shaped chest and contracture of wrist and knee joint.

Type 0 SMA have recently been documented. The presentation is more severe, with a history of diminished fetal movements in utero, and presenting at birth with asphyxia and severe weakness. MacLeod, et al. [1] first reported five cases of neonatal onset SMA. There is only one previous case report from India [2]. To date, it is not known with certainty whether this subgroup represents a distinct entity or is merely the severe end of the classic SMA type 1. We reported a rare multisystemic presentation of SMA associated with intractable seizures not due to HIE, asymptomatic congenital heart disease (CHD), congenital contracture, spontaneous long bone fracture, and osteopenia. All the above associations are described in different permutation and combination in literature but not in a single patient, as in our case.

SMA presenting with CHD has rarely been reported. However in a study, Rudnik-Schöneborn et al stated that 75% patients with a single　SMN2　copy had congenital SMA with haemodynamically relevant septal defects and suggested that the SMN protein is relevant for normal cardiogenesis [3]. Seizures in case of SMA type 0 are generally described as a consequence of HIE subsequent to birth asphyxia. In our case the infant presented with refractory seizures which were not because of HIE. However a different seizure phenotype has been described with SMA by Dyment, et al. [4].

In literature, SMA presenting with congenital contracture have been described in association with Ubiquitin-activating enzyme 1 (UBE1)　mutation [5]. The consistent radiographic findings of each infant with neuromuscular disease in study by Rodriguez JI showed multiple diaphyseal or metaphyseal fractures or both, primarily involving the long bones of the upper extremities [6,7]. Eve Vaidla, et al. also described both the features of fractures and heart defect in a neonate with SMA in their case report [8].

To conclude, SMA should be kept in mind in the differential diagnosis for unexplained severe generalized hypotonia and severe respiratory distress immediately after birth in the neonates, notably in patients with a bright expression and alert disposition. Various phenotypes of SMA having multisystem involvement are increasingly being described. Whether having a genetic basis or just chance association, still needs to be elucidated.

Contributors: SK: Acquisition, analysis and interpretation of data, drafting the manuscript; RG: Critical revision of the manuscript for important intellectual content final approval of the version to be published.

Funding: None; Competing interests: None stated.

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4. Dyment D, Sell E,　Vanstone M,　Smith A,　Garandeau D,　Garcia V, et al. Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. Clin Genet.　2013 Oct 25. doi:. [Epub ahead of print]

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