Magnetic resonance imaging of a case of monomelic macrodystrophia lipomatosa

Abstract

Macrodystrophia lipomatosa is a rare form of non-hereditary congenital localized gigantism. Radiographs and magnetic resonance imaging of one such case in a 3-year-old girl is presented in which the entire right-lower limb was affected. Radiographs revealed excessive soft tissue hypertrophy and exostoses-like bony overgrowth from the metatarsals. Magnetic resonance images showed excess unencapsulated fatty proliferation and fatty infiltration of the involved muscles.

A Review of Macrodystrophia Lipomatosa: Revisitation

“…This is why some patients first present at a later age. Esthetic problems, on the other hand, can begin at any age [ 2 8 9 10 11 ]. Patients or their parents seek treatment typically due to the cosmetic appearance of the affected area, although functional reasons also play an important role.…”

“…Many modalities have been reported to act as adjuncts in confirming the diagnosis, providing histopathological examination could not be performed [ 11 13 15 ]. Basic radiographic modalities that have widely been used are X-ray [ 23 24 25 26 ], MRI [ 10 16 27 28 29 30 31 ], CT scan [ 11 14 32 33 ], and ultrasonography [ 2 14 33 34 ]. Additional examinations, such as nerve conduction tests and electromyography [ 27 35 ], may also be performed.…”

“…Esthetic outcomes, as mentioned earlier, play an important part in the evaluation of surgery outcomes [ 10 11 ]. The satisfaction from the patients or parents may be higher than the physicians' expectation.…”

“…MDL can be categorized into and progressive In static MDL, the affected grows proportionately, while in progressive MDL, disproportionate growth occurs [12]. Some studies have postulated that the growth of the affected area may slow down or cease if patients have finished their growth spurts [8,10,13]. This idea, however, seems more likely to apply to the static type of MDL.…”

Macrodystrophia Lipomatosa: A Rare Case of Ulnar Nerve Territory Involvement

“…Most cases involve the index and middle fingers corresponding to the median nerve territory, medial aspect of the foot corresponding to plantar nerve territory. 8 So far, multiple cases involving the median nerve territory, 9 10 medial aspect of the foot, 7 11 12 13 lateral aspect of the foot, 5 entire limb, 14 15 16 abdominal wall, 17 and only one case involving the ulnar nerve territory 5 has been reported. To the best of our knowledge and with extensive literature review, this is the second case of MDL involving the fourth and fifth digits, corresponding to the ulnar nerve territory.…”