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American Journal of Medical Genetics 71:486–487 (1997)
Letter to the Editor
Cerebellar and Brainstem ‘‘Atrophy’’ in a Patient
With Kabuki Make-Up Syndrome
To the Editor:
We report on cerebellar and brainstem atrophy on
MRI in a 13-year-old boy with the typical clinical findings of Kabuki make-up syndrome [Niikawa et al.,
1981; Kuroki et al., 1981]. The patient, born to a 34year-old G3P2-3Ab0 mother and a nonconsanguineous
39-year-old father, was delivered at term by spontaneous vaginal delivery with a birth weight of 3,600 g. He
was noted to have cleft palate. Because of feeding difficulties, he was hospitalized for 45 days. His psychomotor development was delayed. He gained head control at age 6 months, rolled over at 9 months, walked at
2 years, and spoke the first word at 2 1⁄2 years. He had
surgery for a bilateral inguinal hernia at age 6 months.
He was referred to our hospital because of developmental delay and short stature (105 cm < −2 S.D.) at age 7
1⁄2 years. On examination he had arched eyebrows with
sparse lateral one-third, long palpebral fissures, eversion of the lateral third of the lower eyelids, long eyelashes, a broad and depressed nasal tip, large prominent earlobes (Fig. 1A) and prominent fingertip pads,
all typical manifestations of Kabuki make-up syndrome. There were no abnormal neurological findings
other than mental retardation. At 13 years, his intelligence quotient was estimated at 51 by the Wechsler
Intelligence Scale Revised. A brain MRI study was performed using a 1.5 Tesla system consisting of an axial
T1 weighted image (TR 500, TE 15 ms) and T2
weighted image (TR 4500, TE 112 ms). This examination demonstrated an enlarged fourth ventricle, and
normal lateral and third ventricles without cerebral
atrophy. Cerebellar fissures appeared prominent.
There was no area of abnormal signal intensity in the
brainstem or in the cerebellum (Fig. 1B, C, and D).
*Correspondence to: Toyojiro Matsuishi, M.D., Department of
Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830, Japan.
Received 31 July 1996; Accepted 25 December 1996
© 1997 Wiley-Liss, Inc.
Fig. 1. The patient at 8 years of age showing typical facial features of
Kabuki make-up syndrome (A); a brain MRI study revealed cerebellar and
brainstem atrophy (B–D).
These findings were consistent with cerebellar and
brain stem ‘‘atrophy’’ or hypoplasia. Common MRI findings associated with hypoxic-ischemic insults in newborn infants including basal ganglial lesions, periventricular leukomalacia or multicystic encephalomalacia
[Volpe, 1995] were not seen in this patient. To our
knowledge, this is the first report of such MRI findings
among more than 100 reports on Kabuki make-up syndrome. The brain ‘‘atrophy’’ in our patient is less likely
due to neonatal asphyxia. A morphometric study measuring the size of the brainstem and cerebellum in a
Letter to the Editor
large number of cases with Kabuki make-up syndrome
is now in progress.
Shoji Yano
Toyojiro Matsuishi*
Makoto Yoshino
Hirohisa Kato
Department of Pediatrics and Child Health
Kazuyuki Kojima
Department of Radiology
Kurume University School of Medicine
Kurume, Japan
487
REFERENCES
Kuroki Y, Suzuki Y, Chiyo H, Hata A, Matsui I (1981): A new malformation
syndrome of long palpebral fissures, large ears, depressed nasal tip and
skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediat 99:570–573.
Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T (1981): Kabuki
make-up syndrome: A syndrome of mental retardation, unusual facies,
large and protruding ears, and postnatal growth deficiency. J Pediat
99:565–569.
Volpe JJ (1995): ‘‘Neurology of the Newborn.’’ 3rd ed. Philadelphia: Saunders, pp 314–369.
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