Journal of Pediatric Neurosciences
: 2020  |  Volume : 15  |  Issue : 3  |  Page : 279--282

Macrophagic myofasciitis: A report of two south Indian infants

Vykuntaraju K Gowda1, Varunvenkat M Srinivasan1, Yasha Muthane2, Gayathri Narayanappa2,  
1 Department of Pediatric Neurology, Indira Gandhi institute of Child Health, Bangalore, Karnataka, India
2 Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India

Correspondence Address:
Dr. Vykuntaraju K Gowda
Bangalore Child Neurology and Rehabilitation Center, No 8/A, First Cross, First Main, Near Adhichunchanagiri choultry, Vijayanagar, Bangalore, Karnataka.


Macrophagic myofasciitis is a rare inflammatory myopathy characterized by peri-fascicular macrophage infiltration without muscle necrosis. Here we report two children presented in the early infancy. Case 1: a 5-month-old girl presented with lack of neck control and floppiness. On examination, generalized hypotonia, absent deep tendon reflexes, and motor power of 2/5 (Medical Research Council grade) were observed. Case 2: a 17-day-old boy presented with poor feeding, tachypnea, and floppiness. On examination, decreased tone in all limbs and power of <2/5 in all limbs with absent reflexes were observed. Routine investigations including serum Creatine phosphokinase of both babies were normal. Muscle biopsy showed features of macrophagic myofasciitis in both infants. Any floppy infant of lower motor neuron type macrophagic myofasciitis should be considered in addition to inherited causes.

How to cite this article:
Gowda VK, Srinivasan VM, Muthane Y, Narayanappa G. Macrophagic myofasciitis: A report of two south Indian infants.J Pediatr Neurosci 2020;15:279-282

How to cite this URL:
Gowda VK, Srinivasan VM, Muthane Y, Narayanappa G. Macrophagic myofasciitis: A report of two south Indian infants. J Pediatr Neurosci [serial online] 2020 [cited 2021 Jan 24 ];15:279-282
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Macrophagic myofasciitis (MMF) is a rare pathological entity first described in France.[1] The initial cases with the description of the disease were adults who underwent muscle biopsies due to myalgia, arthralgia, and fever with a presumptive diagnosis of polymyositis or polymyalgia rheumatic.[1] Pediatric MMF is a rare entity and usually presents with hypotonia and motor delay. Here we describe two south Indian infants who presented in the early part of infancy.

 Case 1

A 5-month-old girl born to consanguineously married couple presented with delay in neck control and floppiness. Birth history was normal. Developmentally, child attained cooing, social smile, and recognition of mother by 3 months, but not attained neck control. The child was immunized as per national immunization schedule with one dose of BCG and three doses of DPT. On examination, hypotonia in all limbs, absent deep tendon reflexes, and power of less than 2/5 (MRC grade) in both upper and lower limbs were observed. No fasciculation, atrophy, and hypertrophy of muscles were seen. On investigations, complete hemogram, serum electrolytes, liver and renal parameters, echocardiography, and Creatine phosphokinase (CPK) levels (219) were all normal. Muscle biopsy done from right vastus lateralis muscle showing extensive edema and inflammation in fascia and muscle on paraffin and cryosection sections, perivascular inflammation, with numerous Periodic acid–Schiff (PAS)-positive macrophages [Figure 1]. With the aforementioned findings, a diagnosis of MMF was considered.{Figure 1}

 Case 2

A 17-day-old newborn, born to consanguineously married couple presented with respiratory distress and paucity of movement of all limbs. Birth history was normal. Child received only oral polio vaccine. On examination, hypotonia in all limbs, diminished deep tendon reflexes, and power of less than 2/5 (MRC Grade) were observed. There were no fasciculation. On investigations, complete hemogram, serum electrolytes, liver and renal parameters, and serum CPK levels (169) were normal. Muscle biopsy from left vastus lateralis showed extensive edema and inflammation on cryosection, extensive necrosis in the fascia on paraffin section, and sheets of macrophages on CD68 immunohistochemistry [Figure 2]. The aforementioned findings were consistent with MMF.{Figure 2}


We report two paralytic floppy babies presented in the early part of infancy secondary to MMF. Most children with MMF are described between 1 and 14 years of age.[2] MMF has been described recently as to its association as a local reaction to aluminum-containing vaccines.[2] Our two babies presented very early part of infancy, one baby in the newborn period before receiving any injectable vaccine. Recently MMF was described in identical twins and was associated with HLA DRB1*O1.[3] Both babies were born out of consanguineously married couple.

The pathological features in MMF classically described are infiltration of PAS-positive cells of macrophage lineage in epimysium, perimysium, and perifascicular endomysium.[4],[5],[6] The disorder was previously described in isolated cases with renal fibromuscular dysplasia,[4] inclusion body myositis,[5] and few patients with central nervous system demyelinating disorders.[6]

On follow-up, first child is currently 6 years old and able to sit but not able to walk with normal cognition. Second baby is 9 months old with paucity of movements of limbs and lack of head control but attained normal social milestones.

Gruis et al.[7] reported four cases of MMF who presented predominantly with failure to thrive (FTT), motor delay, and hypotonia with age of presentation from 6 to 18 months. Most of these children improved significantly after physical therapy.[7] Di Muzio et al.[8] noted clinical improvement after oral prednisone; however, this was unclear.[8] None of our cases had FTT. Our first child received oral steroids over 1 month but not noticed any improvement. Kakkar et al. reported series of six patients from Indian subcontinent with mean age of presentation at 16.2 months with motor delay and hypotonia. All six patients had biopsy features of MMF with one among them had a coexistent merosin-deficient congenital muscular dystrophy (CMD).[9] MMF is an emerging condition, first reported in 1998.[10] Main clinical manifestations observed in adult patients with persistent MMF lesions at muscle biopsy are the following: chronic musculoskeletal pain (arthromyalgias), chronic fatigue, and cognitive disorders.[10]

MMF is still underdiagnosed due to lack of awareness. These children are rare phenotypes compared to previous description in the literature. The classical features such as pain and fatigue described mainly in adults are not present in these children as they are not able to communicate. During follow both children cognitively were normal, with over 5-year follow-up in the first child. Both these two children were born to consanguineously married couple and not received any aluminum-hydroxide-containing vaccinations suggests some genetic component rather than adverse reaction to vaccinations. Second child is the youngest baby reported till now in the literature, which suggests MMF should be considered as one of the differential diagnosis even in the newborn babies. These two children feature expanding phenotype of MMF and allow more confidence in pediatrician and parents as vaccination is not the main reason for MMF.


In paralytic floppy infant, MMF should be considered in addition to other inherited neuromuscular disorders.

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Conflicts of interest

There are no conflicts of interest.


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