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Idiopathic infantile bile peritonitis
1 2 0 2 Brie[ clinical and laboratory observations
REFERENCES
I. Gilson, J. S., Holter, N. J., and Glasscock, W. R.: Clinical observations using the electrocardiocorder-AVSEP continuous electrocardiographic system, Am. J. Cardiol. 14: 204, 1964. 2. Morgan, B. C., Bloom, R. S., and Guntheroth, W. G.: Cardiac arrhythmias in premature infants, Pediatrics 35: 658, 1965. 3. Levine, O. R., and Griffiths, S. P.: Electrocardiographic findings in healthy premature infants, Pediatrics 30: 361, 1962. 4. Fonseca Costa, A., Faul, B. C., Ledbetter, M. K., and Oalmon, M. D.: The electrocardiogram of the premature infant, Am. Heart. J. 67: 4, 1964.
December 1965
5. Furman, R. A., and Halloran, W. R.: The electrocardiogram in the first two months of life, J. PEBIAT. 39: 307, 1951. 6. Datey, K. K., and Bharucha, P. E.: Electrocardiographic changes in the first week of life, Brit. Heart J. 22: 175, 1960. 7. Riehman, B., and Master, A. M.: The unipolar chest and extremity lead electrocardiogram in children, Am. Heart J. 41: 687, 1951. 8. Gros, G., Gordon, A., and Miller, R.: Electrocardiographic patterns of normal children from birth to five years of age, Pediatrics 8: 349, 1951.
Idiopathic infantile bile peritonitis W i l f o r d D. Hoofer, M.D., F.A.C.S.* HALSTEAD~
KAN.
N o N T R A U M A T I C
bile
peritonitis in the
neonatal period has been r e p o r t e d by Caulfield 2 (1936), Byrne a n d Bottomley I (1953), a n d Davies a n d Elliott-Smith 3 (1955). A n other case in an infant at 22 m o n t h s of age was r e p o r t e d by H i n d m a r s h ~ in 1947. A search of the English literature has revealed only the 8 cases described by the above authors, a n d this c o m m u n i c a t i o n will r e p o r t the ninth case. T h o u g h 2 of the above reported cases have been due to t r a u m a t i c r u p t u r e of the e x t r a h e p a t i c biliary tree secondary to a congenital a b n o r m a l i t y or stone, each a u t h o r reports a case in which the etiology was u n d e t e r mined.2, 3, .~ T h e clinical course of the previously rep o r t e d cases has varied from a s y m p t o m a t i c a b d o m i n a l distention to that of high fever a n d shock. F o u r of the infants were b r o u g h t for
medical attention, not because of j a u n d i c e or a b d o m i n a l distention, b u t because of p a r e n t a l concern over the sudden a p p e a r ance of b i l a t e r a l inguinal herniasY, 3 Davies a n d E l l i o t t - S m i t h a were so impressed with the innocuous n a t u r e of this disease in their 2 patients t h a t they suggested the disease should be described as bile ascites, r a t h e r t h a n as bile peritonitis. Gross 4 postulates t h a t the high osmolarity of the e x t r a v a s a t e d bile is responsible for the e x t r e m e a b d o m i n a l distention in these infants. Davies a n d E l l i o t t - S m i t h suggest that the often present inguinal hernias m a y act as a safety valve for the m a r k e d increase in a b d o m i n a l pressure. T h e following is a r e p o r t of a 4-weeks-old, oriental male seen on the Surgical Service, U. S. N a v a l Hospital, Portsmouth, Virginia, for r e p a i r of bilateral inguinal hernias. CASE
From the Department o[ Surgery, The Hertzler Clinic, Hertzler Research Foundation, a n d The Halstead Hospital. *Address, Department o] Surgery, The Hertzlvr Clinic, Halstead, Kan.
REPORT
The child was the product of a full-term, normal delivery, and was first admitted to the pediatric service of the U. S. Naval Hospital,
Volume 67 Number 6
Brief clinical and laboratory observations
Portsmouth, at 2 weeks of age for treatment of otitis media. The blood, urine, x-ray, and spinal fluid studies were within normal limits. He was treated with penicillin and discharged 4 days later, apparently well. At 4 weeks of age he was seen on the surgical service and scheduled for repair of bilateral inguinal hernias which had appeared suddenly during the previous week. No other abnormalities were apparent at that time. He was admitted a week later when abdominal distention became evident and the hernias increased in size. Positive physical findings on admission were limited to a nontender, moderately distended abdomen, and bilateral, easily reducible inguinal hernias. Clinical jaundice was not evident. The admission hematologic, urinary, and x-ray examinations were within normal limits. On the day following admission, acholic stools and dark diaper urine stains were noted. Hepatic function studies were performed and revealed the total bilirubin to be 5.028 rag. per cent (direct fraction 3.225 mg. per cent); alkaline phosphatase, 28 King-Armstrong units; serum glutamic oxaloacetic transaminase, 50 units; and thymol turbidity, normal. The urine was positive for bile, but the urinary urobilinogen was below normal. Multiple stool examinations were negative for ova and parasites. Paracentesis yielded fluid with the consistency of bile, and the total bilirubin content of this fluid was 37.84 mg. per cent. A Gram stain, culture, cell block, and Papanicolaou smear were negative. On the eighth hospital day exploratory laparotomy was performed: 500 c.c. of bile-stained ascitic fluid was removed. The abdominal viscera were deeply bile stained and covered with many filmy adhesions. These adhesions were particularly dense in the right upper quadrant, necessitating division to free the stomach and duodenum from the under surface of the liver. Further dissection in this area revealed a normal-appearing gallbladder and common bile duct. The gallbladder was aspirated and 3 c.c. of white mucoid fluid was obtained. An operative cholangiogram was performed via the gallbladder, which demonstrated only this organ and a few small ducts filling in the liver. The common bile duct and the right and left hepatic ducts were incised, but no lumen could be demonstrated. A liver biopsy was performed and the abdomen closed, with drainage. The postoperative course was entirely uneventful. Considerable bile drainage occurred during the next 4 days,
120 3
but gradually abated. All evidence of hyperbilirubinemia disappeared, and the stools returned to normal color. Microscopically the liver biopsy showed minute foci of bile stasis, but no other abnormalities. The abdominal distention did not recur, nor were the inguinal hernias visibly evident. Two and one-half months following discharge the child was asymptomatic, gaining weight rapidly, and without evidence of jaundice. Hepatic function studies were normal except for elevation of the serum alkaline phosphatase level to 50.8 King-Armstrong units. Oral and intravenous cholangiography have failed to demonstrate the extrahepatic biliary tree. At the time of this writing, 24 months postoperatively, the child continues to do well; however, the continued elevation of the serum alkaline phosphatase level leaves the ultimate prognosis somewhat guarded. DISCUSSION T h o u g h bile peritonitis in adults a p p e a r s to be an extremely h a z a r d o u s a n d frequently lethal condition, the same does not a p p e a r to be true in infants. I n 4 of the cases previously reported, a n d in the above described patient, the infants have tolerated the situation r a t h e r well. T h a t t r e a t m e n t is necessary, however, is shown by one of Caulfield's cases in which the infant died of inanition 8 weeks following the onset of symptoms, a n d w i t h o u t exploration. E x c e p t in those cases in which r e p a i r of a d e m o n s t r a b l e b i l i a r y defect is possible, establishing simple surgical d r a i n a g e a p p e a r s to be the t r e a t m e n t of choice even in the most severe form of the disease. All of the authors q u o t e d have r e p o r t e d success with this form of t r e a t m e n t . T h e etiology of the bile peritonitis in the case r e p o r t e d in this article r e m a i n s obscure. While an a n a t o m i c a l l y n o r m a l - a p p e a r i n g ext r a h e p a t i c biliary tree was d e m o n s t r a t e d at surgery, a diligent effort to d e m o n s t r a t e an internal o p e n i n g in these ducts was unsuccessful. F u r t h e r m o r e , bile could not be d e m o n s t r a t e d in the g a l l b l a d d e r even with an o p e r a t i v e c h o l a n g i o g r a m d e m o n s t r a t i n g fine ducts e x t e n d i n g to the g a l l b l a d d e r f r o m the liver. Dissection in the u p p e r right q u a d r a n t
I 2 04
December 1965
Brie[ clinical and laboratory observations
also failed to demonstrate any other connection between the liver and the intestinal tract. In view of this patient's postoperative course, one must either postulate an undemonstrated biliary intestinal connection, or what appears more attractive, a very small but patent lumen in the existing ductal system. Against this possibility, however, is the fact that intravenous cholangiography and oral cholecystography have failed to demonstrate either the duetal system or the gallbladder. T h e continued elevation of the serum alkaline phosphatase level suggests that a partial obstruction still exists and that the prognosis should be guarded for some time.
SUMMARY
The usual clinical course appears to be that of abdominal distention, icterus, and the presence of bilateral inguinal hernias, the latter being the reason for surgical intervention. Although unusual, extreme distention, fever, and a shocklike state has been reported.
REFERENCES I. Byrne, J. J., and Bottomley, G. T.: Bile peritonitis in infancy, Am. J. Dis. Child. 85: 694, 1953. 2. Caulfield, E.: Bile peritonitis in infancy, Am. J. Dis. Child. 52: 1348, 1936. 3. Davies, P. A., and Elliott-Smith, A.: Bile peritonitis in infancy, Arch. Dis. Childhood 30; 174, 1955. 4. Gross, R. E.: The surgery of infancy and childhood, Philadelphia, 1953, W. B. Saunders Company. 5. Hindmarsh, F. D.: Bile peritonitis in infancy, Brit. M. J. 2: 131, 1947.
A case of bile peritonitis of undetermined etiology in a 4-week-old male infant has been presented.
Twins with cacloecticdwarfism Clarence A. McIntyre, Jr., M.D.,* and Harold W. Brown, M.D. NAMPA~ IDAHO
DWARFISM is characterized by mental retardation, dwarfism, kyphosis, multiple bony deformities, long extremities with large hands and feet, prognathism, sunken eyes, lack of subcutaneous tissue in the face, reedy voice, unsteady gait, and various optic abnormalities. T h e recent review of the literature on cachectic dwarfism by Harvey Spark 1 did not mention twins with the cachectic dwarfism syndrome. CACII-IECTIG
From the Medical Department, Idaho State School and Hospital, and Medical Center Clinic. *Address, Box 47, Nampa, Idaho 83651.
Therefore, we are presenting examples of this syndrome in each of twins, one of w h o m died recently. Prior to death, photographs were obtained which demonstrate the skin and orthopedic abnormalities (Figs. 1 and
2). CASE REPORT The twins, Glenn O. and Gordon O., were 33 years of age at the time of this report and they have been residents of the Idaho State School and Hospital since they were 10 years of age. They were the product of a normal pregnancy in a 27-year-old gravida iv, para iii, aborta 0 mother. No developmental history is availabl%
Volume 67 Number 6
Brief clinical and laboratory observations
but they were able to walk with a stiff, stamping gait at the time of admission. They have always been very sensitive to sunlight, sustaining severe burns on only minimal exposure from which depigmented scars developed on the skin, particularly on the face. Glenn O. has had epi-
Fig. 1.
Fig. 2.
1 2 05
lepsy from birth which has been in rather good control on anticonvulsant therapy. For many years he had a positive tuberculin skin test. Recently his chest roentgenogram revealed active pulmonary disease and gastric washings were positive for tubercle bacilli. Despite treatment with isoniazid, para-aminosalicylic acid, and streptomycin, he deteriorated rapidly and died after a terminal febrile course. Permission for autopsy was denied. Physical examination on Nov. 6, 1963, showed that the body measurements of both men were under the third percentiles. They had very large hands with stubby fingers and toes, and the skin of the extremities was purplish and atrophic in appearance. Each of them had a right-sided kyphoscoliosis. The skin was tight over the face. They had a grotesque stamping gait and both had flexion deformities of all joints. Ankyloses were not extensive except in the joints of the feet and contributed to severe pes valgo planus. The eyes were sunken; the chin was jutting; and there were frontal bossing and prominent superorbital ridges. The eye grounds were normal. There were light scars over the forehead from burns and other trauma. Deep tendon reflexes were normal. No abnormalities were noted on examination of the heart, lungs, abdomen, genitals, and rectum. Both men had high-pitched, coarse, reedy voices and extensive tremors on movement, but not during relaxation. These m e n fit the typical picture of autosomal recessively inherited cachetic dwarfism described by C o c k a y n e in Levinson a n d Bigler, 2 a n d by M c D o n a l d , Fitch, a n d Louis, 3
1 206
Brie[ clinical and laboratory observations
with the exception of retinitis pigmentosa. T h e family history does not reveal a n y similar sort of disorder, a n d the r e m a i n i n g m e m bers of the family who have been e x a m i n e d do not d e m o n s t r a t e the typical a p p e a r a n c e , b u t r a t h e r are c h u b b y a n d plethoric. M o s t other affected persons 1, 2, a have d e m o n strated a familial (recessive) recurrence, but no c h r o m o s o m a l a b n o r m a l i t y .
December 1965
REFERENCES 1. Spark, H.: Cachectic dwarfism resembling the Cockayne-Neill type, J. PEmAT, 66: 41, 1965. 2. Levlnson, A., and Bigler, J. A.: Mental retardation in infants and children, Chicago, 1960, Year Book Medical Publishers, pp. 193194. 3. McDonald, W. M., Fitch, K. D., and Louis, I. D.: Cockayne's syndrome, an heredofamilial disorder of growth and development, Pediatrics 25: 997, 1960.
REFERENCES
I. Gilson, J. S., Holter, N. J., and Glasscock, W. R.: Clinical observations using the electrocardiocorder-AVSEP continuous electrocardiographic system, Am. J. Cardiol. 14: 204, 1964. 2. Morgan, B. C., Bloom, R. S., and Guntheroth, W. G.: Cardiac arrhythmias in premature infants, Pediatrics 35: 658, 1965. 3. Levine, O. R., and Griffiths, S. P.: Electrocardiographic findings in healthy premature infants, Pediatrics 30: 361, 1962. 4. Fonseca Costa, A., Faul, B. C., Ledbetter, M. K., and Oalmon, M. D.: The electrocardiogram of the premature infant, Am. Heart. J. 67: 4, 1964.
December 1965
5. Furman, R. A., and Halloran, W. R.: The electrocardiogram in the first two months of life, J. PEBIAT. 39: 307, 1951. 6. Datey, K. K., and Bharucha, P. E.: Electrocardiographic changes in the first week of life, Brit. Heart J. 22: 175, 1960. 7. Riehman, B., and Master, A. M.: The unipolar chest and extremity lead electrocardiogram in children, Am. Heart J. 41: 687, 1951. 8. Gros, G., Gordon, A., and Miller, R.: Electrocardiographic patterns of normal children from birth to five years of age, Pediatrics 8: 349, 1951.
Idiopathic infantile bile peritonitis W i l f o r d D. Hoofer, M.D., F.A.C.S.* HALSTEAD~
KAN.
N o N T R A U M A T I C
bile
peritonitis in the
neonatal period has been r e p o r t e d by Caulfield 2 (1936), Byrne a n d Bottomley I (1953), a n d Davies a n d Elliott-Smith 3 (1955). A n other case in an infant at 22 m o n t h s of age was r e p o r t e d by H i n d m a r s h ~ in 1947. A search of the English literature has revealed only the 8 cases described by the above authors, a n d this c o m m u n i c a t i o n will r e p o r t the ninth case. T h o u g h 2 of the above reported cases have been due to t r a u m a t i c r u p t u r e of the e x t r a h e p a t i c biliary tree secondary to a congenital a b n o r m a l i t y or stone, each a u t h o r reports a case in which the etiology was u n d e t e r mined.2, 3, .~ T h e clinical course of the previously rep o r t e d cases has varied from a s y m p t o m a t i c a b d o m i n a l distention to that of high fever a n d shock. F o u r of the infants were b r o u g h t for
medical attention, not because of j a u n d i c e or a b d o m i n a l distention, b u t because of p a r e n t a l concern over the sudden a p p e a r ance of b i l a t e r a l inguinal herniasY, 3 Davies a n d E l l i o t t - S m i t h a were so impressed with the innocuous n a t u r e of this disease in their 2 patients t h a t they suggested the disease should be described as bile ascites, r a t h e r t h a n as bile peritonitis. Gross 4 postulates t h a t the high osmolarity of the e x t r a v a s a t e d bile is responsible for the e x t r e m e a b d o m i n a l distention in these infants. Davies a n d E l l i o t t - S m i t h suggest that the often present inguinal hernias m a y act as a safety valve for the m a r k e d increase in a b d o m i n a l pressure. T h e following is a r e p o r t of a 4-weeks-old, oriental male seen on the Surgical Service, U. S. N a v a l Hospital, Portsmouth, Virginia, for r e p a i r of bilateral inguinal hernias. CASE
From the Department o[ Surgery, The Hertzler Clinic, Hertzler Research Foundation, a n d The Halstead Hospital. *Address, Department o] Surgery, The Hertzlvr Clinic, Halstead, Kan.
REPORT
The child was the product of a full-term, normal delivery, and was first admitted to the pediatric service of the U. S. Naval Hospital,
Volume 67 Number 6
Brief clinical and laboratory observations
Portsmouth, at 2 weeks of age for treatment of otitis media. The blood, urine, x-ray, and spinal fluid studies were within normal limits. He was treated with penicillin and discharged 4 days later, apparently well. At 4 weeks of age he was seen on the surgical service and scheduled for repair of bilateral inguinal hernias which had appeared suddenly during the previous week. No other abnormalities were apparent at that time. He was admitted a week later when abdominal distention became evident and the hernias increased in size. Positive physical findings on admission were limited to a nontender, moderately distended abdomen, and bilateral, easily reducible inguinal hernias. Clinical jaundice was not evident. The admission hematologic, urinary, and x-ray examinations were within normal limits. On the day following admission, acholic stools and dark diaper urine stains were noted. Hepatic function studies were performed and revealed the total bilirubin to be 5.028 rag. per cent (direct fraction 3.225 mg. per cent); alkaline phosphatase, 28 King-Armstrong units; serum glutamic oxaloacetic transaminase, 50 units; and thymol turbidity, normal. The urine was positive for bile, but the urinary urobilinogen was below normal. Multiple stool examinations were negative for ova and parasites. Paracentesis yielded fluid with the consistency of bile, and the total bilirubin content of this fluid was 37.84 mg. per cent. A Gram stain, culture, cell block, and Papanicolaou smear were negative. On the eighth hospital day exploratory laparotomy was performed: 500 c.c. of bile-stained ascitic fluid was removed. The abdominal viscera were deeply bile stained and covered with many filmy adhesions. These adhesions were particularly dense in the right upper quadrant, necessitating division to free the stomach and duodenum from the under surface of the liver. Further dissection in this area revealed a normal-appearing gallbladder and common bile duct. The gallbladder was aspirated and 3 c.c. of white mucoid fluid was obtained. An operative cholangiogram was performed via the gallbladder, which demonstrated only this organ and a few small ducts filling in the liver. The common bile duct and the right and left hepatic ducts were incised, but no lumen could be demonstrated. A liver biopsy was performed and the abdomen closed, with drainage. The postoperative course was entirely uneventful. Considerable bile drainage occurred during the next 4 days,
120 3
but gradually abated. All evidence of hyperbilirubinemia disappeared, and the stools returned to normal color. Microscopically the liver biopsy showed minute foci of bile stasis, but no other abnormalities. The abdominal distention did not recur, nor were the inguinal hernias visibly evident. Two and one-half months following discharge the child was asymptomatic, gaining weight rapidly, and without evidence of jaundice. Hepatic function studies were normal except for elevation of the serum alkaline phosphatase level to 50.8 King-Armstrong units. Oral and intravenous cholangiography have failed to demonstrate the extrahepatic biliary tree. At the time of this writing, 24 months postoperatively, the child continues to do well; however, the continued elevation of the serum alkaline phosphatase level leaves the ultimate prognosis somewhat guarded. DISCUSSION T h o u g h bile peritonitis in adults a p p e a r s to be an extremely h a z a r d o u s a n d frequently lethal condition, the same does not a p p e a r to be true in infants. I n 4 of the cases previously reported, a n d in the above described patient, the infants have tolerated the situation r a t h e r well. T h a t t r e a t m e n t is necessary, however, is shown by one of Caulfield's cases in which the infant died of inanition 8 weeks following the onset of symptoms, a n d w i t h o u t exploration. E x c e p t in those cases in which r e p a i r of a d e m o n s t r a b l e b i l i a r y defect is possible, establishing simple surgical d r a i n a g e a p p e a r s to be the t r e a t m e n t of choice even in the most severe form of the disease. All of the authors q u o t e d have r e p o r t e d success with this form of t r e a t m e n t . T h e etiology of the bile peritonitis in the case r e p o r t e d in this article r e m a i n s obscure. While an a n a t o m i c a l l y n o r m a l - a p p e a r i n g ext r a h e p a t i c biliary tree was d e m o n s t r a t e d at surgery, a diligent effort to d e m o n s t r a t e an internal o p e n i n g in these ducts was unsuccessful. F u r t h e r m o r e , bile could not be d e m o n s t r a t e d in the g a l l b l a d d e r even with an o p e r a t i v e c h o l a n g i o g r a m d e m o n s t r a t i n g fine ducts e x t e n d i n g to the g a l l b l a d d e r f r o m the liver. Dissection in the u p p e r right q u a d r a n t
I 2 04
December 1965
Brie[ clinical and laboratory observations
also failed to demonstrate any other connection between the liver and the intestinal tract. In view of this patient's postoperative course, one must either postulate an undemonstrated biliary intestinal connection, or what appears more attractive, a very small but patent lumen in the existing ductal system. Against this possibility, however, is the fact that intravenous cholangiography and oral cholecystography have failed to demonstrate either the duetal system or the gallbladder. T h e continued elevation of the serum alkaline phosphatase level suggests that a partial obstruction still exists and that the prognosis should be guarded for some time.
SUMMARY
The usual clinical course appears to be that of abdominal distention, icterus, and the presence of bilateral inguinal hernias, the latter being the reason for surgical intervention. Although unusual, extreme distention, fever, and a shocklike state has been reported.
REFERENCES I. Byrne, J. J., and Bottomley, G. T.: Bile peritonitis in infancy, Am. J. Dis. Child. 85: 694, 1953. 2. Caulfield, E.: Bile peritonitis in infancy, Am. J. Dis. Child. 52: 1348, 1936. 3. Davies, P. A., and Elliott-Smith, A.: Bile peritonitis in infancy, Arch. Dis. Childhood 30; 174, 1955. 4. Gross, R. E.: The surgery of infancy and childhood, Philadelphia, 1953, W. B. Saunders Company. 5. Hindmarsh, F. D.: Bile peritonitis in infancy, Brit. M. J. 2: 131, 1947.
A case of bile peritonitis of undetermined etiology in a 4-week-old male infant has been presented.
Twins with cacloecticdwarfism Clarence A. McIntyre, Jr., M.D.,* and Harold W. Brown, M.D. NAMPA~ IDAHO
DWARFISM is characterized by mental retardation, dwarfism, kyphosis, multiple bony deformities, long extremities with large hands and feet, prognathism, sunken eyes, lack of subcutaneous tissue in the face, reedy voice, unsteady gait, and various optic abnormalities. T h e recent review of the literature on cachectic dwarfism by Harvey Spark 1 did not mention twins with the cachectic dwarfism syndrome. CACII-IECTIG
From the Medical Department, Idaho State School and Hospital, and Medical Center Clinic. *Address, Box 47, Nampa, Idaho 83651.
Therefore, we are presenting examples of this syndrome in each of twins, one of w h o m died recently. Prior to death, photographs were obtained which demonstrate the skin and orthopedic abnormalities (Figs. 1 and
2). CASE REPORT The twins, Glenn O. and Gordon O., were 33 years of age at the time of this report and they have been residents of the Idaho State School and Hospital since they were 10 years of age. They were the product of a normal pregnancy in a 27-year-old gravida iv, para iii, aborta 0 mother. No developmental history is availabl%
Volume 67 Number 6
Brief clinical and laboratory observations
but they were able to walk with a stiff, stamping gait at the time of admission. They have always been very sensitive to sunlight, sustaining severe burns on only minimal exposure from which depigmented scars developed on the skin, particularly on the face. Glenn O. has had epi-
Fig. 1.
Fig. 2.
1 2 05
lepsy from birth which has been in rather good control on anticonvulsant therapy. For many years he had a positive tuberculin skin test. Recently his chest roentgenogram revealed active pulmonary disease and gastric washings were positive for tubercle bacilli. Despite treatment with isoniazid, para-aminosalicylic acid, and streptomycin, he deteriorated rapidly and died after a terminal febrile course. Permission for autopsy was denied. Physical examination on Nov. 6, 1963, showed that the body measurements of both men were under the third percentiles. They had very large hands with stubby fingers and toes, and the skin of the extremities was purplish and atrophic in appearance. Each of them had a right-sided kyphoscoliosis. The skin was tight over the face. They had a grotesque stamping gait and both had flexion deformities of all joints. Ankyloses were not extensive except in the joints of the feet and contributed to severe pes valgo planus. The eyes were sunken; the chin was jutting; and there were frontal bossing and prominent superorbital ridges. The eye grounds were normal. There were light scars over the forehead from burns and other trauma. Deep tendon reflexes were normal. No abnormalities were noted on examination of the heart, lungs, abdomen, genitals, and rectum. Both men had high-pitched, coarse, reedy voices and extensive tremors on movement, but not during relaxation. These m e n fit the typical picture of autosomal recessively inherited cachetic dwarfism described by C o c k a y n e in Levinson a n d Bigler, 2 a n d by M c D o n a l d , Fitch, a n d Louis, 3
1 206
Brie[ clinical and laboratory observations
with the exception of retinitis pigmentosa. T h e family history does not reveal a n y similar sort of disorder, a n d the r e m a i n i n g m e m bers of the family who have been e x a m i n e d do not d e m o n s t r a t e the typical a p p e a r a n c e , b u t r a t h e r are c h u b b y a n d plethoric. M o s t other affected persons 1, 2, a have d e m o n strated a familial (recessive) recurrence, but no c h r o m o s o m a l a b n o r m a l i t y .
December 1965
REFERENCES 1. Spark, H.: Cachectic dwarfism resembling the Cockayne-Neill type, J. PEmAT, 66: 41, 1965. 2. Levlnson, A., and Bigler, J. A.: Mental retardation in infants and children, Chicago, 1960, Year Book Medical Publishers, pp. 193194. 3. McDonald, W. M., Fitch, K. D., and Louis, I. D.: Cockayne's syndrome, an heredofamilial disorder of growth and development, Pediatrics 25: 997, 1960.